Canonical Allele Identifier: CA387462207

Gene: GJB2

Linked Data

• ClinVar Variation Id: 811469
• ClinVar RCV Id: RCV001001343
• dbSNP Id: rs1593351795
• MyVariant Identifiers: chr13:g.20763683A>C (hg19) ; chr13:g.20189544A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189544A>C , CM000675.2:g.20189544A>C	GRCh38
NC_000013.10:g.20763683A>C , CM000675.1:g.20763683A>C	GRCh37
NC_000013.9:g.19661683A>C	NCBI36
NG_008358.1:g.8432T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.38T>G	ENSP00000372295.1:p.Val13Gly
ENST00000382848.5:c.38T>G MANE Select	ENSP00000372299.4:p.Val13Gly
ENST00000382844.1:c.38T>G	ENSP00000372295.1:p.Val13Gly
ENST00000382848.4:c.38T>G	ENSP00000372299.4:p.Val13Gly
NM_004004.5:c.38T>G	NP_003995.2:p.Val13Gly
XM_011535049.1:c.38T>G	XP_011533351.1:p.Val13Gly
XM_011535049.2:c.38T>G	XP_011533351.1:p.Val13Gly
NM_004004.6:c.38T>G MANE Select	NP_003995.2:p.Val13Gly