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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 21 exons, is annotated with 96 domains and features, is associated with 68421 variant alleles and maps to 596 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: 21, Coding exons: 20, Transcript length: 6,320 bps, Translation length: 1,546 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS1516

Uniprot

This transcript corresponds to the following Uniprot identifiers: O75445

Incomplete CDS

CDS 5' and 3' incomplete

Version

ENST00000366942.3

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000090016 (version 3)
GENCODE basic gene

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

Transcript-based displays