Canonical Allele Identifier: CA2077139802
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189342C= , CM000675.2:g.20189342C= GRCh38
NC_000013.10:g.20763481C= , CM000675.1:g.20763481C= GRCh37
NC_000013.9:g.19661481C= NCBI36
NG_008358.1:g.8634G=

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.240G= ENSP00000372295.1:p.Gln80=
ENST00000382848.5:c.240G= MANE Select ENSP00000372299.4:p.Gln80=
ENST00000382844.1:c.240G= ENSP00000372295.1:p.Gln80=
ENST00000382848.4:c.240G= ENSP00000372299.4:p.Gln80=
NM_004004.5:c.240G= NP_003995.2:p.Gln80=
XM_011535049.1:c.240G= XP_011533351.1:p.Gln80=
XM_011535049.2:c.240G= XP_011533351.1:p.Gln80=
NM_004004.6:c.240G= MANE Select NP_003995.2:p.Gln80=