Canonical Allele Identifier: CA387461319

Gene: GJB2

Linked Data

• ClinVar Variation Id: 560889
• ClinVar RCV Id: RCV000679816 ; RCV001291333
• dbSNP Id: rs150529554
• gnomAD v2: 13-20763366-C-A
• gnomAD v4: 13-20189227-C-A
• MyVariant Identifiers: chr13:g.20763366C>A (hg19) ; chr13:g.20189227C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189227C>A , CM000675.2:g.20189227C>A	GRCh38
NC_000013.10:g.20763366C>A , CM000675.1:g.20763366C>A	GRCh37
NC_000013.9:g.19661366C>A	NCBI36
NG_008358.1:g.8749G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.355G>T	ENSP00000372295.1:p.Glu119Ter
ENST00000382848.5:c.355G>T MANE Select	ENSP00000372299.4:p.Glu119Ter
ENST00000382844.1:c.355G>T	ENSP00000372295.1:p.Glu119Ter
ENST00000382848.4:c.355G>T	ENSP00000372299.4:p.Glu119Ter
NM_004004.5:c.355G>T	NP_003995.2:p.Glu119Ter
XM_011535049.1:c.355G>T	XP_011533351.1:p.Glu119Ter
XM_011535049.2:c.355G>T	XP_011533351.1:p.Glu119Ter
NM_004004.6:c.355G>T MANE Select	NP_003995.2:p.Glu119Ter