Canonical Allele Identifier: CA2077138098
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188388T= , CM000675.2:g.20188388T= GRCh38
NC_000013.10:g.20762527T= , CM000675.1:g.20762527T= GRCh37
NC_000013.9:g.19660527T= NCBI36
NG_008358.1:g.9588A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*513A= ENSP00000372295.1:n.*513A=
ENST00000382848.5:c.*513A= MANE Select ENSP00000372299.4:n.*513A=
ENST00000382844.1:c.*513A= ENSP00000372295.1:n.*513A=
ENST00000382848.4:c.*513A= ENSP00000372299.4:n.*513A=
NM_004004.5:c.*513A= NP_003995.2:n.*513A=
XM_011535049.1:c.*513A= XP_011533351.1:n.*513A=
XM_011535049.2:c.*513A= XP_011533351.1:n.*513A=
NM_004004.6:c.*513A= MANE Select NP_003995.2:n.*513A=