Canonical Allele Identifier: CA2565347455
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28284918_28284919insAA , CM000677.2:g.28284918_28284919insAA GRCh38
NC_000015.9:g.28530064_28530065insAA , CM000677.1:g.28530064_28530065insAA GRCh37
NC_000015.8:g.26203659_26203660insAA NCBI36
NG_016355.1:g.42231_42232insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.323-4632_323-4631insTT MANE Select ENSP00000261609.8:n.323-4632_323-4631insTT
ENST00000261609.11:c.323-4632_323-4631insTT ENSP00000261609.7:n.323-4632_323-4631insTT
ENST00000564383.1:n.218-4632_218-4631insTT
ENST00000564734.5:c.*193-4632_*193-4631insTT ENSP00000456237.1:n.*193-4632_*193-4631insTT
NM_004667.5:c.323-4632_323-4631insTT NP_004658.3:n.323-4632_323-4631insTT
XM_005268276.3:c.209-4632_209-4631insTT XP_005268333.1:n.209-4632_209-4631insTT
XM_005268277.3:c.209-4632_209-4631insTT XP_005268334.1:n.209-4632_209-4631insTT
XM_006720726.2:c.323-4632_323-4631insTT XP_006720789.1:n.323-4632_323-4631insTT
XM_006720727.2:c.323-4632_323-4631insTT XP_006720790.1:n.323-4632_323-4631insTT
XM_011522133.1:c.322+7969_322+7970insTT XP_011520435.1:n.322+7969_322+7970insTT
XM_011522135.1:c.323-4632_323-4631insTT XP_011520437.1:n.323-4632_323-4631insTT
XM_011522136.1:c.323-4632_323-4631insTT XP_011520438.1:n.323-4632_323-4631insTT
XM_011522137.1:c.323-4632_323-4631insTT XP_011520439.1:n.323-4632_323-4631insTT
XR_931930.1:n.452-4632_452-4631insTT
XR_931931.1:n.452-4632_452-4631insTT
XM_005268276.5:c.209-4632_209-4631insTT XP_005268333.1:n.209-4632_209-4631insTT
XM_006720726.3:c.323-4632_323-4631insTT XP_006720789.1:n.323-4632_323-4631insTT
XM_006720727.3:c.323-4632_323-4631insTT XP_006720790.1:n.323-4632_323-4631insTT
XM_017022695.1:c.209-4632_209-4631insTT XP_016878184.1:n.209-4632_209-4631insTT
XM_017022696.1:c.209-4632_209-4631insTT XP_016878185.1:n.209-4632_209-4631insTT
XR_001751410.1:n.453-4632_453-4631insTT
XR_931930.2:n.453-4632_453-4631insTT
NM_004667.6:c.323-4632_323-4631insTT MANE Select NP_004658.3:n.323-4632_323-4631insTT