Human (GRCh38.p14)
Description

usherin [Source:HGNC Symbol;Acc:HGNC:12601]

Gene Synonyms

RP39, USH2

Location

Chromosome 1: 215,622,891-216,423,448 reverse strand.

GRCh38:CM000663.2

About this gene

This gene has 5 transcripts (splice variants), 174 orthologues, 27 paralogues and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000307340.8USH2A-201189385202aaENSP00000305941.3
 
Protein coding
CCDS31025O75445-1 NM_206933.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000674083.1USH2A-205190105226aaENSP00000501296.1
 
Protein coding
O75445-3 -GENCODE basic
ENST00000366942.3USH2A-20263201546aaENSP00000355909.3
 
Protein coding
CCDS1516O75445-2 -GENCODE basicTSL:1
ENST00000481786.1USH2A-204626No protein-
 
Retained intron
--TSL:2
ENST00000463147.1USH2A-203618No protein-
 
Retained intron
--TSL:2