Canonical Allele Identifier: CA7443463

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28269252G>A , CM000677.2:g.28269252G>A	GRCh38
NC_000015.9:g.28514398G>A , CM000677.1:g.28514398G>A	GRCh37
NC_000015.8:g.26187993G>A	NCBI36
NG_016355.1:g.57898C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004667.6:c.1442C>T MANE Select	NP_004658.3:p.Thr481Met
ENST00000261609.13:c.1442C>T MANE Select	ENSP00000261609.8:p.Thr481Met
NM_004667.5:c.1442C>T	NP_004658.3:p.Thr481Met
ENST00000261609.11:c.1442C>T	ENSP00000261609.7:p.Thr481Met
ENST00000564734.5:c.*1312C>T	ENSP00000456237.1:n.*1312C>T
XM_005268276.3:c.1328C>T	XP_005268333.1:p.Thr443Met
XM_005268276.5:c.1328C>T	XP_005268333.1:p.Thr443Met
XM_005268277.3:c.1328C>T	XP_005268334.1:p.Thr443Met
XM_006720726.2:c.1442C>T	XP_006720789.1:p.Thr481Met
XM_006720726.3:c.1442C>T	XP_006720789.1:p.Thr481Met
XM_006720727.2:c.1184C>T	XP_006720790.1:p.Thr395Met
XM_006720727.3:c.1184C>T	XP_006720790.1:p.Thr395Met
XM_011522131.1:c.959C>T	XP_011520433.1:p.Thr320Met
XM_011522132.1:c.107+2963C>T	XP_011520434.1:n.107+2963C>T
XM_011522133.1:c.322+23636C>T	XP_011520435.1:n.322+23636C>T
XM_011522135.1:c.1442C>T	XP_011520437.1:p.Thr481Met
XM_011522136.1:c.1442C>T	XP_011520438.1:p.Thr481Met
XM_011522137.1:c.1442C>T	XP_011520439.1:p.Thr481Met
XM_017022695.1:c.1328C>T	XP_016878184.1:p.Thr443Met
XM_017022696.1:c.1328C>T	XP_016878185.1:p.Thr443Met
XR_001751410.1:n.1572C>T
XR_931930.1:n.1571C>T
XR_931930.2:n.1572C>T
XR_931931.1:n.1571C>T