Canonical Allele Identifier: CA387460948

Gene: GJB2

Linked Data

• MyVariant Identifiers: chr13:g.20763185T>A (hg19) ; chr13:g.20189046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189046T>A , CM000675.2:g.20189046T>A	GRCh38
NC_000013.10:g.20763185T>A , CM000675.1:g.20763185T>A	GRCh37
NC_000013.9:g.19661185T>A	NCBI36
NG_008358.1:g.8930A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.536A>T	ENSP00000372295.1:p.Asp179Val
ENST00000382848.5:c.536A>T MANE Select	ENSP00000372299.4:p.Asp179Val
ENST00000382844.1:c.536A>T	ENSP00000372295.1:p.Asp179Val
ENST00000382848.4:c.536A>T	ENSP00000372299.4:p.Asp179Val
NM_004004.5:c.536A>T	NP_003995.2:p.Asp179Val
XM_011535049.1:c.536A>T	XP_011533351.1:p.Asp179Val
XM_011535049.2:c.536A>T	XP_011533351.1:p.Asp179Val
NM_004004.6:c.536A>T MANE Select	NP_003995.2:p.Asp179Val