Canonical Allele Identifier: CA2077139348
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189197C= , CM000675.2:g.20189197C= GRCh38
NC_000013.10:g.20763336C= , CM000675.1:g.20763336C= GRCh37
NC_000013.9:g.19661336C= NCBI36
NG_008358.1:g.8779G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.385G= ENSP00000372295.1:p.Glu129=
ENST00000382848.5:c.385G= MANE Select ENSP00000372299.4:p.Glu129=
ENST00000382844.1:c.385G= ENSP00000372295.1:p.Glu129=
ENST00000382848.4:c.385G= ENSP00000372299.4:p.Glu129=
NM_004004.5:c.385G= NP_003995.2:p.Glu129=
XM_011535049.1:c.385G= XP_011533351.1:p.Glu129=
XM_011535049.2:c.385G= XP_011533351.1:p.Glu129=
NM_004004.6:c.385G= MANE Select NP_003995.2:p.Glu129=