Gene: USH2A ENSG00000042781

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 5 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000307340.3	USH2A-002	18883	5202aa	ENSP00000305941.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS31025	O75445	NM_206933.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000366943.2	USH2A-201	18955	5226aa	ENSP00000355910.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O75445	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000366942.3	USH2A-001	6320	1546aa	ENSP00000355909.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1516	O75445	NM_007123.5	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000481786.1	USH2A-003	626	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000463147.1	USH2A-004	618	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: USH2A ENSG00000042781

Summary

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Gene: USH2A ENSG00000042781

Summary