Canonical Allele Identifier: CA696364278

Gene: GJB2

Linked Data

• dbSNP Id: rs1274445834
• gnomAD v3: 13-20189707-C-A
• gnomAD v4: 13-20189707-C-A
• MyVariant Identifiers: chr13:g.20763846C>A (hg19) ; chr13:g.20189707C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189707C>A , CM000675.2:g.20189707C>A	GRCh38
NC_000013.10:g.20763846C>A , CM000675.1:g.20763846C>A	GRCh37
NC_000013.9:g.19661846C>A	NCBI36
NG_008358.1:g.8269G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-126G>T	ENSP00000372295.1:n.-126G>T
ENST00000382848.5:c.-22-104G>T MANE Select	ENSP00000372299.4:n.-22-104G>T
ENST00000382844.1:c.-126G>T	ENSP00000372295.1:n.-126G>T
ENST00000382848.4:c.-22-104G>T	ENSP00000372299.4:n.-22-104G>T
NM_004004.5:c.-22-104G>T	NP_003995.2:n.-22-104G>T
XM_011535049.1:c.-22-104G>T	XP_011533351.1:n.-22-104G>T
XM_011535049.2:c.-22-104G>T	XP_011533351.1:n.-22-104G>T
NM_004004.6:c.-22-104G>T MANE Select	NP_003995.2:n.-22-104G>T