Canonical Allele Identifier: CA2528764038

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188860C>A , CM000675.2:g.20188860C>A	GRCh38
NC_000013.10:g.20762999C>A , CM000675.1:g.20762999C>A	GRCh37
NC_000013.9:g.19660999C>A	NCBI36
NG_008358.1:g.9116G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*41G>T	ENSP00000372295.1:n.*41G>T
ENST00000382848.5:c.*41G>T MANE Select	ENSP00000372299.4:n.*41G>T
ENST00000382844.1:c.*41G>T	ENSP00000372295.1:n.*41G>T
ENST00000382848.4:c.*41G>T	ENSP00000372299.4:n.*41G>T
NM_004004.5:c.*41G>T	NP_003995.2:n.*41G>T
XM_011535049.1:c.*41G>T	XP_011533351.1:n.*41G>T
XM_011535049.2:c.*41G>T	XP_011533351.1:n.*41G>T
NM_004004.6:c.*41G>T MANE Select	NP_003995.2:n.*41G>T