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Human (GRCh37.p13)
Description

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

Gene Synonyms

RP39, US2, USH2, dJ1111A8.1

Location

Chromosome 1: 215,796,236-216,596,738 reverse strand.

GRCh37:CM000663.1

About this gene

This gene has 5 transcripts (splice variants), 11 paralogues and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
USH2A-002ENST00000307340.3188835202aaENSP00000305941.3
 
Protein coding
CCDS31025O75445 NM_206933
NP_996816
GENCODE basic
USH2A-001ENST00000366942.363201546aaENSP00000355909.3
 
Protein coding
CCDS1516O75445 NM_007123
NP_009054
GENCODE basic
USH2A-201ENST00000366943.2189555226aaENSP00000355910.2
 
Protein coding
-O75445 -GENCODE basic
USH2A-003ENST00000481786.1626No protein-
 
Retained intron
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USH2A-004ENST00000463147.1618No protein-
 
Retained intron
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Gene-based displays