Canonical Allele Identifier: CA2499221955

Gene: GJB2

Linked Data

• ClinVar Variation Id: 1202621
• ClinVar RCV Id: RCV001729948
• dbSNP Id: rs2137308740

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189500_20189503delinsTCT , CM000675.2:g.20189500_20189503delinsTCT	GRCh38
NC_000013.10:g.20763639_20763642delinsTCT , CM000675.1:g.20763639_20763642delinsTCT	GRCh37
NC_000013.9:g.19661639_19661642delinsTCT	NCBI36
NG_008358.1:g.8473_8476delinsAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.79_82delinsAGA	ENSP00000372295.1:p.Val27ArgfsTer8
ENST00000382848.5:c.79_82delinsAGA MANE Select	ENSP00000372299.4:p.Val27ArgfsTer8
ENST00000382844.1:c.79_82delinsAGA	ENSP00000372295.1:p.Val27ArgfsTer8
ENST00000382848.4:c.79_82delinsAGA	ENSP00000372299.4:p.Val27ArgfsTer8
NM_004004.5:c.79_82delinsAGA	NP_003995.2:p.Val27ArgfsTer8
XM_011535049.1:c.79_82delinsAGA	XP_011533351.1:p.Val27ArgfsTer8
XM_011535049.2:c.79_82delinsAGA	XP_011533351.1:p.Val27ArgfsTer8
NM_004004.6:c.79_82delinsAGA MANE Select	NP_003995.2:p.Val27ArgfsTer8