Canonical Allele Identifier: CA2077139972
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189363G= , CM000675.2:g.20189363G= GRCh38
NC_000013.10:g.20763502G= , CM000675.1:g.20763502G= GRCh37
NC_000013.9:g.19661502G= NCBI36
NG_008358.1:g.8613C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.219C= ENSP00000372295.1:p.His73=
ENST00000382848.5:c.219C= MANE Select ENSP00000372299.4:p.His73=
ENST00000382844.1:c.219C= ENSP00000372295.1:p.His73=
ENST00000382848.4:c.219C= ENSP00000372299.4:p.His73=
NM_004004.5:c.219C= NP_003995.2:p.His73=
XM_011535049.1:c.219C= XP_011533351.1:p.His73=
XM_011535049.2:c.219C= XP_011533351.1:p.His73=
NM_004004.6:c.219C= MANE Select NP_003995.2:p.His73=