Canonical Allele Identifier: CA241521

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189202C>A , CM000675.2:g.20189202C>A	GRCh38
NC_000013.10:g.20763341C>A , CM000675.1:g.20763341C>A	GRCh37
NC_000013.9:g.19661341C>A	NCBI36
NG_008358.1:g.8774G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004004.6:c.380G>T MANE Select	NP_003995.2:p.Arg127Leu
ENST00000382848.5:c.380G>T MANE Select	ENSP00000372299.4:p.Arg127Leu
NM_004004.5:c.380G>T	NP_003995.2:p.Arg127Leu
ENST00000382844.1:c.380G>T	ENSP00000372295.1:p.Arg127Leu
ENST00000382844.2:c.380G>T	ENSP00000372295.1:p.Arg127Leu
ENST00000382848.4:c.380G>T	ENSP00000372299.4:p.Arg127Leu
XM_011535049.1:c.380G>T	XP_011533351.1:p.Arg127Leu
XM_011535049.2:c.380G>T	XP_011533351.1:p.Arg127Leu