Canonical Allele Identifier: CA6904240

Gene: GJB2

Linked Data

• ClinVar Variation Id: 882641
• ClinVar RCV Id: RCV001112463 ; RCV001113808 ; RCV001113809 ; RCV001288925
• dbSNP Id: rs752236261
• ExAC: 13:20763175 C / T
• gnomAD v2: 13-20763175-C-T
• gnomAD v3: 13-20189036-C-T
• gnomAD v4: 13-20189036-C-T
• MyVariant Identifiers: chr13:g.20763175C>T (hg19) ; chr13:g.20189036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189036C>T , CM000675.2:g.20189036C>T	GRCh38
NC_000013.10:g.20763175C>T , CM000675.1:g.20763175C>T	GRCh37
NC_000013.9:g.19661175C>T	NCBI36
NG_008358.1:g.8940G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.546G>A	ENSP00000372295.1:p.Val182=
ENST00000382848.5:c.546G>A MANE Select	ENSP00000372299.4:p.Val182=
ENST00000382844.1:c.546G>A	ENSP00000372295.1:p.Val182=
ENST00000382848.4:c.546G>A	ENSP00000372299.4:p.Val182=
NM_004004.5:c.546G>A	NP_003995.2:p.Val182=
XM_011535049.1:c.546G>A	XP_011533351.1:p.Val182=
XM_011535049.2:c.546G>A	XP_011533351.1:p.Val182=
NM_004004.6:c.546G>A MANE Select	NP_003995.2:p.Val182=