Canonical Allele Identifier: CA267913248

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28234162G>A , CM000677.2:g.28234162G>A	GRCh38
NC_000015.9:g.28479308G>A , CM000677.1:g.28479308G>A	GRCh37
NC_000015.8:g.26152903G>A	NCBI36
NG_016355.1:g.92988C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004667.6:c.4126C>T MANE Select	NP_004658.3:p.Arg1376Ter
ENST00000261609.13:c.4126C>T MANE Select	ENSP00000261609.8:p.Arg1376Ter
NM_004667.5:c.4126C>T	NP_004658.3:p.Arg1376Ter
ENST00000261609.11:c.4126C>T	ENSP00000261609.7:p.Arg1376Ter
XM_005268276.3:c.4012C>T	XP_005268333.1:p.Arg1338Ter
XM_005268276.5:c.4012C>T	XP_005268333.1:p.Arg1338Ter
XM_005268277.3:c.4012C>T	XP_005268334.1:p.Arg1338Ter
XM_006720726.2:c.4111C>T	XP_006720789.1:p.Arg1371Ter
XM_006720726.3:c.4111C>T	XP_006720789.1:p.Arg1371Ter
XM_006720727.2:c.3868C>T	XP_006720790.1:p.Arg1290Ter
XM_006720727.3:c.3868C>T	XP_006720790.1:p.Arg1290Ter
XM_011522131.1:c.3643C>T	XP_011520433.1:p.Arg1215Ter
XM_011522132.1:c.1642C>T	XP_011520434.1:p.Arg548Ter
XM_011522133.1:c.871C>T	XP_011520435.1:p.Arg291Ter
XM_011522135.1:c.4126C>T	XP_011520437.1:p.Arg1376Ter
XM_011522136.1:c.4126C>T	XP_011520438.1:p.Arg1376Ter
XM_011522137.1:c.4126C>T	XP_011520439.1:p.Arg1376Ter
XM_017022695.1:c.4012C>T	XP_016878184.1:p.Arg1338Ter
XM_017022696.1:c.4012C>T	XP_016878185.1:p.Arg1338Ter
XR_001751410.1:n.4256C>T
XR_931930.1:n.4255C>T
XR_931930.2:n.4256C>T
XR_931931.1:n.4255C>T