Canonical Allele Identifier: CA2622251595

Gene: GJB2

Linked Data

• gnomAD v4: 13-20188515-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188515C>A , CM000675.2:g.20188515C>A	GRCh38
NC_000013.10:g.20762654C>A , CM000675.1:g.20762654C>A	GRCh37
NC_000013.9:g.19660654C>A	NCBI36
NG_008358.1:g.9461G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.*386G>T	ENSP00000372295.1:n.*386G>T
ENST00000382848.5:c.*386G>T MANE Select	ENSP00000372299.4:n.*386G>T
ENST00000382844.1:c.*386G>T	ENSP00000372295.1:n.*386G>T
ENST00000382848.4:c.*386G>T	ENSP00000372299.4:n.*386G>T
NM_004004.5:c.*386G>T	NP_003995.2:n.*386G>T
XM_011535049.1:c.*386G>T	XP_011533351.1:n.*386G>T
XM_011535049.2:c.*386G>T	XP_011533351.1:n.*386G>T
NM_004004.6:c.*386G>T MANE Select	NP_003995.2:n.*386G>T