Description

Usher syndrome 2A (autosomal recessive, mild) [Source:HGNC Symbol;Acc:HGNC:12601]

Synonyms

RP39, USH2

Location

Chromosome 1: 215,622,894-216,423,396 reverse strand.

GRCh38:CM000663.2

About this gene

This gene has 4 transcripts (splice variants), 66 orthologues, 11 paralogues, is a member of 1 Ensembl protein family and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
USH2A-002ENST00000307340188835202aaENSP00000305941
 
Protein coding
CCDS31025O75445 NM_206933
NP_996816
TSL:1GENCODE basicAPPRIS P1
USH2A-001ENST0000036694263201546aaENSP00000355909
 
Protein coding
CCDS1516O75445 NM_007123
NP_009054
TSL:1GENCODE basic
USH2A-003ENST00000481786626No protein-
 
Retained intron
---TSL:2
USH2A-004ENST00000463147618No protein-
 
Retained intron
---TSL:2

Gene-based displays