Canonical Allele Identifier: CA117046
Gene: HERC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4745
ClinVar RCV Id: RCV000005011
dbSNP Id: rs12913832

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28120472A>G , CM000677.2:g.28120472A>G GRCh38
NC_000015.9:g.28365618A>G , CM000677.1:g.28365618A>G GRCh37
NC_000015.8:g.26039213A>G NCBI36
NG_016355.1:g.206678T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.13272+874T>C MANE Select ENSP00000261609.8:p.=
ENST00000650509.1:n.4751+874T>C ENSP00000496936.1:p.=
ENST00000261609.11:c.13272+874T>C ENSP00000261609.7:p.=
NM_004667.5:c.13272+874T>C NP_004658.3:p.=
XM_005268276.3:c.13158+874T>C XP_005268333.1:p.=
XM_005268277.3:c.13158+874T>C XP_005268334.1:p.=
XM_006720726.2:c.13257+874T>C XP_006720789.1:p.=
XM_006720727.2:c.13014+874T>C XP_006720790.1:p.=
XM_011522131.1:c.12789+874T>C XP_011520433.1:p.=
XM_011522132.1:c.10788+874T>C XP_011520434.1:p.=
XM_011522133.1:c.10017+874T>C XP_011520435.1:p.=
XM_011522134.1:c.7389+874T>C XP_011520436.1:p.=
XM_005268276.5:c.13158+874T>C XP_005268333.1:p.=
XM_006720726.3:c.13257+874T>C XP_006720789.1:p.=
XM_006720727.3:c.13014+874T>C XP_006720790.1:p.=
XM_017022695.1:c.13158+874T>C XP_016878184.1:p.=
XM_017022696.1:c.13158+874T>C XP_016878185.1:p.=
XM_017022697.1:c.6438+874T>C XP_016878186.1:p.=
XM_017022698.1:c.6438+874T>C XP_016878187.1:p.=
NM_004667.6:c.13272+874T>C MANE Select NP_004658.3:p.=