Canonical Allele Identifier: CA7442847

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28238663G>A , CM000677.2:g.28238663G>A	GRCh38
NC_000015.9:g.28483809G>A , CM000677.1:g.28483809G>A	GRCh37
NC_000015.8:g.26157404G>A	NCBI36
NG_016355.1:g.88487C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.3687C>T MANE Select	ENSP00000261609.8:p.Asp1229=
ENST00000261609.11:c.3687C>T	ENSP00000261609.7:p.Asp1229=
NM_004667.5:c.3687C>T	NP_004658.3:p.Asp1229=
XM_005268276.3:c.3573C>T	XP_005268333.1:p.Asp1191=
XM_005268277.3:c.3573C>T	XP_005268334.1:p.Asp1191=
XM_006720726.2:c.3672C>T	XP_006720789.1:p.Asp1224=
XM_006720727.2:c.3429C>T	XP_006720790.1:p.Asp1143=
XM_011522131.1:c.3204C>T	XP_011520433.1:p.Asp1068=
XM_011522132.1:c.1203C>T	XP_011520434.1:p.Asp401=
XM_011522133.1:c.432C>T	XP_011520435.1:p.Asp144=
XM_011522135.1:c.3687C>T	XP_011520437.1:p.Asp1229=
XM_011522136.1:c.3687C>T	XP_011520438.1:p.Asp1229=
XM_011522137.1:c.3687C>T	XP_011520439.1:p.Asp1229=
XR_931930.1:n.3816C>T
XR_931931.1:n.3816C>T
XM_005268276.5:c.3573C>T	XP_005268333.1:p.Asp1191=
XM_006720726.3:c.3672C>T	XP_006720789.1:p.Asp1224=
XM_006720727.3:c.3429C>T	XP_006720790.1:p.Asp1143=
XM_017022695.1:c.3573C>T	XP_016878184.1:p.Asp1191=
XM_017022696.1:c.3573C>T	XP_016878185.1:p.Asp1191=
XR_001751410.1:n.3817C>T
XR_931930.2:n.3817C>T
NM_004667.6:c.3687C>T MANE Select	NP_004658.3:p.Asp1229=