Canonical Allele Identifier: CA2077110535
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189789C= , CM000675.2:g.20189789C= GRCh38
NC_000013.10:g.20763928C= , CM000675.1:g.20763928C= GRCh37
NC_000013.9:g.19661928C= NCBI36
NG_008358.1:g.8187G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-22-186G= MANE Select ENSP00000372299.4:n.-22-186G=
ENST00000382848.4:c.-22-186G= ENSP00000372299.4:n.-22-186G=
NM_004004.5:c.-22-186G= NP_003995.2:n.-22-186G=
XM_011535049.1:c.-22-186G= XP_011533351.1:n.-22-186G=
XM_011535049.2:c.-22-186G= XP_011533351.1:n.-22-186G=
NM_004004.6:c.-22-186G= MANE Select NP_003995.2:n.-22-186G=