Canonical Allele Identifier: CA6904205

Gene: GJB2

Linked Data

• dbSNP Id: rs781210752
• ExAC: 13:20763031 G / C
• gnomAD v2: 13-20763031-G-C
• gnomAD v3: 13-20188892-G-C
• gnomAD v4: 13-20188892-G-C
• MyVariant Identifiers: chr13:g.20763031G>C (hg19) ; chr13:g.20188892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188892G>C , CM000675.2:g.20188892G>C	GRCh38
NC_000013.10:g.20763031G>C , CM000675.1:g.20763031G>C	GRCh37
NC_000013.9:g.19661031G>C	NCBI36
NG_008358.1:g.9084C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.*9C>G	ENSP00000372295.1:n.*9C>G
ENST00000382848.5:c.*9C>G MANE Select	ENSP00000372299.4:n.*9C>G
ENST00000382844.1:c.*9C>G	ENSP00000372295.1:n.*9C>G
ENST00000382848.4:c.*9C>G	ENSP00000372299.4:n.*9C>G
NM_004004.5:c.*9C>G	NP_003995.2:n.*9C>G
XM_011535049.1:c.*9C>G	XP_011533351.1:n.*9C>G
XM_011535049.2:c.*9C>G	XP_011533351.1:n.*9C>G
NM_004004.6:c.*9C>G MANE Select	NP_003995.2:n.*9C>G