Canonical Allele Identifier: CA2077138072

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188357A= , CM000675.2:g.20188357A=	GRCh38
NC_000013.10:g.20762496A= , CM000675.1:g.20762496A=	GRCh37
NC_000013.9:g.19660496A=	NCBI36
NG_008358.1:g.9619T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.*544T=	ENSP00000372295.1:n.*544T=
ENST00000382848.5:c.*544T= MANE Select	ENSP00000372299.4:n.*544T=
ENST00000382844.1:c.*544T=	ENSP00000372295.1:n.*544T=
ENST00000382848.4:c.*544T=	ENSP00000372299.4:n.*544T=
NM_004004.5:c.*544T=	NP_003995.2:n.*544T=
XM_011535049.1:c.*544T=	XP_011533351.1:n.*544T=
XM_011535049.2:c.*544T=	XP_011533351.1:n.*544T=
NM_004004.6:c.*544T= MANE Select	NP_003995.2:n.*544T=