Canonical Allele Identifier: CA2077139518
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189258C= , CM000675.2:g.20189258C= GRCh38
NC_000013.10:g.20763397C= , CM000675.1:g.20763397C= GRCh37
NC_000013.9:g.19661397C= NCBI36
NG_008358.1:g.8718G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.324G= ENSP00000372295.1:p.Lys108=
ENST00000382848.5:c.324G= MANE Select ENSP00000372299.4:p.Lys108=
ENST00000382844.1:c.324G= ENSP00000372295.1:p.Lys108=
ENST00000382848.4:c.324G= ENSP00000372299.4:p.Lys108=
NM_004004.5:c.324G= NP_003995.2:p.Lys108=
XM_011535049.1:c.324G= XP_011533351.1:p.Lys108=
XM_011535049.2:c.324G= XP_011533351.1:p.Lys108=
NM_004004.6:c.324G= MANE Select NP_003995.2:p.Lys108=