EnsemblEnsembl Home
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000307340.3USH2A-002188835202aaENSP00000305941.3
 
Protein coding
CCDS31025O75445 NM_206933
NP_996816
GENCODE basic
ENST00000366942.3USH2A-00163201546aaENSP00000355909.3
 
Protein coding
CCDS1516O75445 NM_007123
NP_009054
GENCODE basic
ENST00000366943.2USH2A-201189555226aaENSP00000355910.2
 
Protein coding
-O75445 -GENCODE basic
ENST00000481786.1USH2A-003626No protein-
 
Retained intron
----
ENST00000463147.1USH2A-004618No protein-
 
Retained intron
----

Gene-based displays