Canonical Allele Identifier: CA2077140417
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189487C= , CM000675.2:g.20189487C= GRCh38
NC_000013.10:g.20763626C= , CM000675.1:g.20763626C= GRCh37
NC_000013.9:g.19661626C= NCBI36
NG_008358.1:g.8489G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.95G= ENSP00000372295.1:p.Arg32=
ENST00000382848.5:c.95G= MANE Select ENSP00000372299.4:p.Arg32=
ENST00000382844.1:c.95G= ENSP00000372295.1:p.Arg32=
ENST00000382848.4:c.95G= ENSP00000372299.4:p.Arg32=
NM_004004.5:c.95G= NP_003995.2:p.Arg32=
XM_011535049.1:c.95G= XP_011533351.1:p.Arg32=
XM_011535049.2:c.95G= XP_011533351.1:p.Arg32=
NM_004004.6:c.95G= MANE Select NP_003995.2:p.Arg32=