Canonical Allele Identifier: CA7442985

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28248654G>A , CM000677.2:g.28248654G>A	GRCh38
NC_000015.9:g.28493800G>A , CM000677.1:g.28493800G>A	GRCh37
NC_000015.8:g.26167395G>A	NCBI36
NG_016355.1:g.78496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.3133C>T MANE Select	ENSP00000261609.8:p.Arg1045Cys
ENST00000261609.11:c.3133C>T	ENSP00000261609.7:p.Arg1045Cys
NM_004667.5:c.3133C>T	NP_004658.3:p.Arg1045Cys
XM_005268276.3:c.3019C>T	XP_005268333.1:p.Arg1007Cys
XM_005268277.3:c.3019C>T	XP_005268334.1:p.Arg1007Cys
XM_006720726.2:c.3133C>T	XP_006720789.1:p.Arg1045Cys
XM_006720727.2:c.2875C>T	XP_006720790.1:p.Arg959Cys
XM_011522131.1:c.2650C>T	XP_011520433.1:p.Arg884Cys
XM_011522132.1:c.649C>T	XP_011520434.1:p.Arg217Cys
XM_011522133.1:c.323-9882C>T	XP_011520435.1:n.323-9882C>T
XM_011522135.1:c.3133C>T	XP_011520437.1:p.Arg1045Cys
XM_011522136.1:c.3133C>T	XP_011520438.1:p.Arg1045Cys
XM_011522137.1:c.3133C>T	XP_011520439.1:p.Arg1045Cys
XR_931930.1:n.3262C>T
XR_931931.1:n.3262C>T
XM_005268276.5:c.3019C>T	XP_005268333.1:p.Arg1007Cys
XM_006720726.3:c.3133C>T	XP_006720789.1:p.Arg1045Cys
XM_006720727.3:c.2875C>T	XP_006720790.1:p.Arg959Cys
XM_017022695.1:c.3019C>T	XP_016878184.1:p.Arg1007Cys
XM_017022696.1:c.3019C>T	XP_016878185.1:p.Arg1007Cys
XR_001751410.1:n.3263C>T
XR_931930.2:n.3263C>T
NM_004667.6:c.3133C>T MANE Select	NP_004658.3:p.Arg1045Cys