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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

About this transcript

This transcript has 73 exons, is annotated with 229 domains and features, is associated with 222026 variant alleles and maps to 1495 oligo probes.

Gene
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
----
USH2A-004ENST00000463147.1618No protein-
 
Retained intron
----
Statistics

Exons: 73, Coding exons: 72, Transcript length: 18,955 bps, Translation length: 5,226 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O75445

Version

ENST00000366943.2

Type

Protein coding

Annotation Method

Annotation produced by the Ensembl genebuild.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays