Canonical Allele Identifier: CA2552611655
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28243763del , CM000677.2:g.28243763del GRCh38
NC_000015.9:g.28488909del , CM000677.1:g.28488909del GRCh37
NC_000015.8:g.26162504del NCBI36
NG_016355.1:g.83388del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.3577+2119del MANE Select ENSP00000261609.8:n.3577+2119del
ENST00000261609.11:c.3577+2119del ENSP00000261609.7:n.3577+2119del
NM_004667.5:c.3577+2119del NP_004658.3:n.3577+2119del
XM_005268276.3:c.3463+2119del XP_005268333.1:n.3463+2119del
XM_005268277.3:c.3463+2119del XP_005268334.1:n.3463+2119del
XM_006720726.2:c.3577+2119del XP_006720789.1:n.3577+2119del
XM_006720727.2:c.3319+2119del XP_006720790.1:n.3319+2119del
XM_011522131.1:c.3094+2119del XP_011520433.1:n.3094+2119del
XM_011522132.1:c.1093+2119del XP_011520434.1:n.1093+2119del
XM_011522133.1:c.323-4990del XP_011520435.1:n.323-4990del
XM_011522135.1:c.3577+2119del XP_011520437.1:n.3577+2119del
XM_011522136.1:c.3577+2119del XP_011520438.1:n.3577+2119del
XM_011522137.1:c.3577+2119del XP_011520439.1:n.3577+2119del
XR_931930.1:n.3706+2119del
XR_931931.1:n.3706+2119del
XM_005268276.5:c.3463+2119del XP_005268333.1:n.3463+2119del
XM_006720726.3:c.3577+2119del XP_006720789.1:n.3577+2119del
XM_006720727.3:c.3319+2119del XP_006720790.1:n.3319+2119del
XM_017022695.1:c.3463+2119del XP_016878184.1:n.3463+2119del
XM_017022696.1:c.3463+2119del XP_016878185.1:n.3463+2119del
XR_001751410.1:n.3707+2119del
XR_931930.2:n.3707+2119del
NM_004667.6:c.3577+2119del MANE Select NP_004658.3:n.3577+2119del