Canonical Allele Identifier: CA483153963

Gene: GJB2

Linked Data

• ClinVar Variation Id: 1540195
• ClinVar RCV Id: RCV002154958
• dbSNP Id: rs2137307608
• gnomAD v4: 13-20189153-C-A
• MyVariant Identifiers: chr13:g.20763292C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189153C>A , CM000675.2:g.20189153C>A	GRCh38
NC_000013.10:g.20763292C>A , CM000675.1:g.20763292C>A	GRCh37
NC_000013.9:g.19661292C>A	NCBI36
NG_008358.1:g.8823G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.429G>T	ENSP00000372295.1:p.Arg143=
ENST00000382848.5:c.429G>T MANE Select	ENSP00000372299.4:p.Arg143=
ENST00000382844.1:c.429G>T	ENSP00000372295.1:p.Arg143=
ENST00000382848.4:c.429G>T	ENSP00000372299.4:p.Arg143=
NM_004004.5:c.429G>T	NP_003995.2:p.Arg143=
XM_011535049.1:c.429G>T	XP_011533351.1:p.Arg143=
XM_011535049.2:c.429G>T	XP_011533351.1:p.Arg143=
NM_004004.6:c.429G>T MANE Select	NP_003995.2:p.Arg143=