Canonical Allele Identifier: CA953781374

Gene: GJB2

Linked Data

• dbSNP Id: rs1959054453
• gnomAD v3: 13-20188872-A-C
• gnomAD v4: 13-20188872-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188872A>C , CM000675.2:g.20188872A>C	GRCh38
NC_000013.10:g.20763011A>C , CM000675.1:g.20763011A>C	GRCh37
NC_000013.9:g.19661011A>C	NCBI36
NG_008358.1:g.9104T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*29T>G	ENSP00000372295.1:n.*29T>G
ENST00000382848.5:c.*29T>G MANE Select	ENSP00000372299.4:n.*29T>G
ENST00000382844.1:c.*29T>G	ENSP00000372295.1:n.*29T>G
ENST00000382848.4:c.*29T>G	ENSP00000372299.4:n.*29T>G
NM_004004.5:c.*29T>G	NP_003995.2:n.*29T>G
XM_011535049.1:c.*29T>G	XP_011533351.1:n.*29T>G
XM_011535049.2:c.*29T>G	XP_011533351.1:n.*29T>G
NM_004004.6:c.*29T>G MANE Select	NP_003995.2:n.*29T>G