Canonical Allele Identifier: CA147793

Gene: GJB2

Linked Data

• ClinVar Variation Id: 94388
• ClinVar RCV Id: RCV000080361 ; RCV000266756 ; RCV000297256 ; RCV000303188 ; RCV000711346 ; RCV001257149
• dbSNP Id: rs72561725
• ExAC: 13:20763735 G / A
• gnomAD v2: 13-20763735-G-A
• gnomAD v3: 13-20189596-G-A
• gnomAD v4: 13-20189596-G-A
• MyVariant Identifiers: chr13:g.20763735G>A (hg19) ; chr13:g.20189596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189596G>A , CM000675.2:g.20189596G>A	GRCh38
NC_000013.10:g.20763735G>A , CM000675.1:g.20763735G>A	GRCh37
NC_000013.9:g.19661735G>A	NCBI36
NG_008358.1:g.8380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-15C>T	ENSP00000372295.1:n.-15C>T
ENST00000382848.5:c.-15C>T MANE Select	ENSP00000372299.4:n.-15C>T
ENST00000382844.1:c.-15C>T	ENSP00000372295.1:n.-15C>T
ENST00000382848.4:c.-15C>T	ENSP00000372299.4:n.-15C>T
NM_004004.5:c.-15C>T	NP_003995.2:n.-15C>T
XM_011535049.1:c.-15C>T	XP_011533351.1:n.-15C>T
XM_011535049.2:c.-15C>T	XP_011533351.1:n.-15C>T
NM_004004.6:c.-15C>T MANE Select	NP_003995.2:n.-15C>T