Gene: GJB2 ENSG00000165474

Description

gap junction protein, beta 2, 26kDa [Source:HGNC Symbol;Acc:4284]

Gene Synonyms

CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK

Location

GRCh37:CM000675.1

About this gene

This gene has 2 transcripts (splice variants), 17 paralogues and is associated with 21 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000382844.1	GJB2-002	2309	226aa	ENSP00000372295.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9290	H9U1J4 P29033	-	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,
ENST00000382848.4	GJB2-001	2250	226aa	ENSP00000372299.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9290	H9U1J4 P29033	NM_004004.5	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

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