Canonical Allele Identifier: CA15857491
Gene: HERC2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2238289

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28208069A>G , CM000677.2:g.28208069A>G GRCh38
NC_000015.9:g.28453215A>G , CM000677.1:g.28453215A>G GRCh37
NC_000015.8:g.26126810A>G NCBI36
NG_016355.1:g.119081T>C

Transcript Alleles

HGVS Amino-acid change
NM_004667.5:c.7070-1687T>C VV NP_004658.3:p.=
XM_005268276.3:c.6956-1687T>C XP_005268333.1:p.=
XM_005268277.3:c.6956-1687T>C XP_005268334.1:p.=
XM_006720726.2:c.7055-1687T>C XP_006720789.1:p.=
XM_006720727.2:c.6812-1687T>C XP_006720790.1:p.=
XM_011522131.1:c.6587-1687T>C XP_011520433.1:p.=
XM_011522132.1:c.4586-1687T>C XP_011520434.1:p.=
XM_011522133.1:c.3815-1687T>C XP_011520435.1:p.=
XM_011522134.1:c.1187-1687T>C XP_011520436.1:p.=
XM_011522135.1:c.7070-1687T>C XP_011520437.1:p.=
XM_011522136.1:c.7070-1687T>C XP_011520438.1:p.=
XM_011522137.1:c.7070-1687T>C XP_011520439.1:p.=
XR_931930.1:n.7199-1687T>C
XR_931931.1:n.7199-1687T>C
XM_005268276.5:c.6956-1687T>C XP_005268333.1:p.=
XM_006720726.3:c.7055-1687T>C XP_006720789.1:p.=
XM_006720727.3:c.6812-1687T>C XP_006720790.1:p.=
XM_017022695.1:c.6956-1687T>C XP_016878184.1:p.=
XM_017022696.1:c.6956-1687T>C XP_016878185.1:p.=
XM_017022697.1:c.236-1687T>C XP_016878186.1:p.=
XM_017022698.1:c.236-1687T>C XP_016878187.1:p.=
XR_001751410.1:n.7200-1687T>C
XR_931930.2:n.7200-1687T>C
ENST00000261609.11:c.7070-1687T>C ENSP00000261609.7:p.=