Human (GRCh38.p14)
Description

Bardet-Biedl syndrome 2 [Source:HGNC Symbol;Acc:HGNC:967]

Gene Synonyms

BBS

Location

Chromosome 16: 56,465,640-56,582,667 reverse strand.

GRCh38:CM000678.2

About this gene

This gene has 109 transcripts (splice variants), 199 orthologues and is associated with 6 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000245157.11BBS2-2012704721aaENSP00000245157.5
 
Protein coding
CCDS32451Q9BXC9 NM_031885.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000682470.1BBS2-2433688721aaENSP00000507654.1
 
Protein coding
CCDS32451A0A804HIE1 Q9BXC9 -GENCODE basicAPPRIS P1
ENST00000682930.1BBS2-2622998696aaENSP00000507981.1
 
Protein coding
A0A804HKL9 -GENCODE basic
ENST00000682205.1BBS2-2362935721aaENSP00000508377.1
 
Protein coding
CCDS32451A0A804HIE1 Q9BXC9 -GENCODE basicAPPRIS P1
ENST00000682737.1BBS2-2562835522aaENSP00000506876.1
 
Protein coding
A0A804HI33 -GENCODE basic
ENST00000682188.1BBS2-2342828736aaENSP00000507655.1
 
Protein coding
A0A804HJV0 -GENCODE basic
ENST00000683858.1BBS2-2872735705aaENSP00000507657.1
 
Protein coding
A0A804HJV2 -GENCODE basic
ENST00000684635.1BBS2-3062671686aaENSP00000507335.1
 
Protein coding
A0A804HJ30 -GENCODE basic
ENST00000683875.1BBS2-2882647645aaENSP00000507602.1
 
Protein coding
A0A804HJQ5 -GENCODE basic
ENST00000568104.6BBS2-2182639675aaENSP00000456289.1
 
Protein coding
H3BRL0 -GENCODE basicTSL:5
ENST00000682047.1BBS2-2282572721aaENSP00000507699.1
 
Protein coding
CCDS32451A0A804HIE1 Q9BXC9 -GENCODE basicAPPRIS P1
ENST00000682855.1BBS2-2582540721aaENSP00000507027.1
 
Protein coding
CCDS32451A0A804HIE1 Q9BXC9 -GENCODE basicAPPRIS P1
ENST00000682482.1BBS2-2452404679aaENSP00000507903.1
 
Protein coding
A0A804HKF2 -GENCODE basic
ENST00000682360.1BBS2-2382341522aaENSP00000508007.1
 
Protein coding
A0A804HI33 -GENCODE basic
ENST00000569941.6BBS2-22162155aaENSP00000456741.2
 
Protein coding
A0A804F8L3 -TSL:4CDS 3' incomplete
ENST00000682088.1BBS2-2296759237aaENSP00000508064.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000682735.1BBS2-2555158237aaENSP00000507007.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000683690.1BBS2-2844942237aaENSP00000508152.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000682543.1BBS2-2483138237aaENSP00000507592.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000684246.1BBS2-3023130237aaENSP00000508273.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000683644.1BBS2-2812951361aaENSP00000507914.1
 
Nonsense mediated decay
A0A804HKG1 --
ENST00000682493.1BBS2-2472928509aaENSP00000506778.1
 
Nonsense mediated decay
A0A804HHV5 --
ENST00000682875.1BBS2-2602812659aaENSP00000507771.1
 
Nonsense mediated decay
A0A804HK50 --
ENST00000684673.1BBS2-3082794510aaENSP00000507746.1
 
Nonsense mediated decay
A0A804HK25 --
ENST00000683384.1BBS2-2732784198aaENSP00000508330.1
 
Nonsense mediated decay
A0A804HLF5 -CDS 5' incomplete
ENST00000683992.1BBS2-2942781237aaENSP00000508144.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000682429.1BBS2-2412739428aaENSP00000506827.1
 
Nonsense mediated decay
A0A804HKI7 --
ENST00000682187.1BBS2-2332713237aaENSP00000507203.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000682348.1BBS2-2372712361aaENSP00000506965.1
 
Nonsense mediated decay
A0A804HKG1 --
ENST00000682449.1BBS2-2422638367aaENSP00000507836.1
 
Nonsense mediated decay
A0A804HK97 --
ENST00000682038.1BBS2-2272613243aaENSP00000508404.1
 
Nonsense mediated decay
A0A804HLL2 --
ENST00000683020.1BBS2-2662611428aaENSP00000507944.1
 
Nonsense mediated decay
A0A804HKI7 --
ENST00000682658.1BBS2-2522610312aaENSP00000507773.1
 
Nonsense mediated decay
A0A804HK51 --
ENST00000682723.1BBS2-2542590460aaENSP00000507115.1
 
Nonsense mediated decay
A0A804HIK5 --
ENST00000683959.1BBS2-2912563162aaENSP00000508309.1
 
Nonsense mediated decay
A0A804HLD7 --
ENST00000561877.2BBS2-2032507121aaENSP00000454986.2
 
Nonsense mediated decay
H3BNS7 -TSL:3CDS 5' incomplete
ENST00000684640.1BBS2-3072466264aaENSP00000507292.1
 
Nonsense mediated decay
A0A804HIZ8 -CDS 5' incomplete
ENST00000683212.1BBS2-2692366428aaENSP00000507839.1
 
Nonsense mediated decay
A0A804HKI7 --
ENST00000683976.1BBS2-2922344158aaENSP00000507183.1
 
Nonsense mediated decay
A0A804HIQ9 --
ENST00000684684.1BBS2-3092301237aaENSP00000507026.1
 
Nonsense mediated decay
A0A804HIE0 --
ENST00000683533.1BBS2-279229538aaENSP00000508296.1
 
Nonsense mediated decay
A0A804HLC6 --
ENST00000562012.2BBS2-205165249aaENSP00000455651.2
 
Nonsense mediated decay
H3BQ79 -TSL:5
ENST00000683978.1BBS2-2932937No protein-
 
Protein coding CDS not defined
---
ENST00000683757.1BBS2-2862783No protein-
 
Protein coding CDS not defined
---
ENST00000682201.1BBS2-2352475No protein-
 
Protein coding CDS not defined
---
ENST00000682473.1BBS2-2442209No protein-
 
Protein coding CDS not defined
---
ENST00000683719.1BBS2-2852162No protein-
 
Protein coding CDS not defined
---
ENST00000564459.6BBS2-2091094No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000565378.2BBS2-2101017No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000561951.5BBS2-204845No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000566689.5BBS2-217578No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000683504.1BBS2-2788161No protein-
 
Retained intron
---
ENST00000566410.2BBS2-2146412No protein-
 
Retained intron
--TSL:3
ENST00000565781.6BBS2-2116109No protein-
 
Retained intron
--TSL:1
ENST00000683008.1BBS2-2655995No protein-
 
Retained intron
---
ENST00000683910.1BBS2-2905593No protein-
 
Retained intron
---
ENST00000683396.1BBS2-2745347No protein-
 
Retained intron
---
ENST00000683485.1BBS2-2775138No protein-
 
Retained intron
---
ENST00000683904.1BBS2-2895121No protein-
 
Retained intron
---
ENST00000682096.1BBS2-2305020No protein-
 
Retained intron
---
ENST00000682960.1BBS2-2644811No protein-
 
Retained intron
---
ENST00000682113.1BBS2-2314787No protein-
 
Retained intron
---
ENST00000682597.1BBS2-2504757No protein-
 
Retained intron
---
ENST00000683609.1BBS2-2804639No protein-
 
Retained intron
---
ENST00000683099.1BBS2-2674599No protein-
 
Retained intron
---
ENST00000683248.1BBS2-2704528No protein-
 
Retained intron
---
ENST00000562813.2BBS2-2074304No protein-
 
Retained intron
--TSL:2
ENST00000683170.1BBS2-2684267No protein-
 
Retained intron
---
ENST00000682757.1BBS2-2574263No protein-
 
Retained intron
---
ENST00000684205.1BBS2-3014249No protein-
 
Retained intron
---
ENST00000684194.1BBS2-3004201No protein-
 
Retained intron
---
ENST00000684128.1BBS2-2994138No protein-
 
Retained intron
---
ENST00000566452.2BBS2-2154062No protein-
 
Retained intron
--TSL:2
ENST00000684446.1BBS2-3044054No protein-
 
Retained intron
---
ENST00000684531.1BBS2-3054012No protein-
 
Retained intron
---
ENST00000682370.1BBS2-2393936No protein-
 
Retained intron
---
ENST00000684076.1BBS2-2983929No protein-
 
Retained intron
---
ENST00000684402.1BBS2-3033811No protein-
 
Retained intron
---
ENST00000682146.1BBS2-2323727No protein-
 
Retained intron
---
ENST00000682705.1BBS2-2533639No protein-
 
Retained intron
---
ENST00000565859.2BBS2-2123614No protein-
 
Retained intron
--TSL:3
ENST00000682948.1BBS2-2633602No protein-
 
Retained intron
---
ENST00000682001.1BBS2-2243599No protein-
 
Retained intron
---
ENST00000684044.1BBS2-2963558No protein-
 
Retained intron
---
ENST00000684057.1BBS2-2973443No protein-
 
Retained intron
---
ENST00000683343.1BBS2-2713424No protein-
 
Retained intron
---
ENST00000569342.6BBS2-2203127No protein-
 
Retained intron
--TSL:5
ENST00000682420.1BBS2-2403117No protein-
 
Retained intron
---
ENST00000682919.1BBS2-2613082No protein-
 
Retained intron
---
ENST00000683410.1BBS2-2753021No protein-
 
Retained intron
---
ENST00000684020.1BBS2-2952992No protein-
 
Retained intron
---
ENST00000683347.1BBS2-2722777No protein-
 
Retained intron
---
ENST00000566210.2BBS2-2132749No protein-
 
Retained intron
--TSL:2
ENST00000562059.2BBS2-2062634No protein-
 
Retained intron
--TSL:4
ENST00000683660.1BBS2-2822539No protein-
 
Retained intron
---
ENST00000682492.1BBS2-2462511No protein-
 
Retained intron
---
ENST00000682005.1BBS2-2252451No protein-
 
Retained intron
---
ENST00000683443.1BBS2-2762428No protein-
 
Retained intron
---
ENST00000682000.1BBS2-2232352No protein-
 
Retained intron
---
ENST00000682857.1BBS2-2592286No protein-
 
Retained intron
---
ENST00000683669.1BBS2-2832064No protein-
 
Retained intron
---
ENST00000682021.1BBS2-2261994No protein-
 
Retained intron
---
ENST00000682561.1BBS2-2491589No protein-
 
Retained intron
---
ENST00000618027.2BBS2-2221558No protein-
 
Retained intron
--TSL:NA
ENST00000569192.6BBS2-2191420No protein-
 
Retained intron
--TSL:3
ENST00000564123.7BBS2-2081391No protein-
 
Retained intron
--TSL:3
ENST00000682623.1BBS2-2511027No protein-
 
Retained intron
---
ENST00000566495.2BBS2-216879No protein-
 
Retained intron
--TSL:5
ENST00000561853.1BBS2-202473No protein-
 
Retained intron
--TSL:3