Canonical Allele Identifier: CA387461446

Gene: GJB2

Linked Data

• ClinVar Variation Id: 633242
• ClinVar RCV Id: RCV000781416 ; RCV001873191 ; RCV004017739
• dbSNP Id: rs1422767764
• gnomAD v2: 13-20763422-T-A
• gnomAD v3: 13-20189283-T-A
• gnomAD v4: 13-20189283-T-A
• MyVariant Identifiers: chr13:g.20763422T>A (hg19) ; chr13:g.20189283T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189283T>A , CM000675.2:g.20189283T>A	GRCh38
NC_000013.10:g.20763422T>A , CM000675.1:g.20763422T>A	GRCh37
NC_000013.9:g.19661422T>A	NCBI36
NG_008358.1:g.8693A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.299A>T	ENSP00000372295.1:p.His100Leu
ENST00000382848.5:c.299A>T MANE Select	ENSP00000372299.4:p.His100Leu
ENST00000382844.1:c.299A>T	ENSP00000372295.1:p.His100Leu
ENST00000382848.4:c.299A>T	ENSP00000372299.4:p.His100Leu
NM_004004.5:c.299A>T	NP_003995.2:p.His100Leu
XM_011535049.1:c.299A>T	XP_011533351.1:p.His100Leu
XM_011535049.2:c.299A>T	XP_011533351.1:p.His100Leu
NM_004004.6:c.299A>T MANE Select	NP_003995.2:p.His100Leu