Canonical Allele Identifier: CA6904322

Gene: GJB2

Linked Data

• ClinVar Variation Id: 499513
• ClinVar RCV Id: RCV000597784 ; RCV000678865 ; RCV000727027
• dbSNP Id: rs111033190
• ExAC: 13:20763626 C / A
• gnomAD v2: 13-20763626-C-A
• gnomAD v3: 13-20189487-C-A
• gnomAD v4: 13-20189487-C-A
• MyVariant Identifiers: chr13:g.20763626C>A (hg19) ; chr13:g.20189487C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189487C>A , CM000675.2:g.20189487C>A	GRCh38
NC_000013.10:g.20763626C>A , CM000675.1:g.20763626C>A	GRCh37
NC_000013.9:g.19661626C>A	NCBI36
NG_008358.1:g.8489G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.95G>T	ENSP00000372295.1:p.Arg32Leu
ENST00000382848.5:c.95G>T MANE Select	ENSP00000372299.4:p.Arg32Leu
ENST00000382844.1:c.95G>T	ENSP00000372295.1:p.Arg32Leu
ENST00000382848.4:c.95G>T	ENSP00000372299.4:p.Arg32Leu
NM_004004.5:c.95G>T	NP_003995.2:p.Arg32Leu
XM_011535049.1:c.95G>T	XP_011533351.1:p.Arg32Leu
XM_011535049.2:c.95G>T	XP_011533351.1:p.Arg32Leu
NM_004004.6:c.95G>T MANE Select	NP_003995.2:p.Arg32Leu