Canonical Allele Identifier: CA7443544

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28270784G>A , CM000677.2:g.28270784G>A	GRCh38
NC_000015.9:g.28515930G>A , CM000677.1:g.28515930G>A	GRCh37
NC_000015.8:g.26189525G>A	NCBI36
NG_016355.1:g.56366C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004667.6:c.1168C>T MANE Select	NP_004658.3:p.Arg390Ter
ENST00000261609.13:c.1168C>T MANE Select	ENSP00000261609.8:p.Arg390Ter
NM_004667.5:c.1168C>T	NP_004658.3:p.Arg390Ter
ENST00000261609.11:c.1168C>T	ENSP00000261609.7:p.Arg390Ter
ENST00000564734.5:c.*1038C>T	ENSP00000456237.1:n.*1038C>T
XM_005268276.3:c.1054C>T	XP_005268333.1:p.Arg352Ter
XM_005268276.5:c.1054C>T	XP_005268333.1:p.Arg352Ter
XM_005268277.3:c.1054C>T	XP_005268334.1:p.Arg352Ter
XM_006720726.2:c.1168C>T	XP_006720789.1:p.Arg390Ter
XM_006720726.3:c.1168C>T	XP_006720789.1:p.Arg390Ter
XM_006720727.2:c.910C>T	XP_006720790.1:p.Arg304Ter
XM_006720727.3:c.910C>T	XP_006720790.1:p.Arg304Ter
XM_011522131.1:c.685C>T	XP_011520433.1:p.Arg229Ter
XM_011522132.1:c.107+1431C>T	XP_011520434.1:n.107+1431C>T
XM_011522133.1:c.322+22104C>T	XP_011520435.1:n.322+22104C>T
XM_011522135.1:c.1168C>T	XP_011520437.1:p.Arg390Ter
XM_011522136.1:c.1168C>T	XP_011520438.1:p.Arg390Ter
XM_011522137.1:c.1168C>T	XP_011520439.1:p.Arg390Ter
XM_017022695.1:c.1054C>T	XP_016878184.1:p.Arg352Ter
XM_017022696.1:c.1054C>T	XP_016878185.1:p.Arg352Ter
XR_001751410.1:n.1298C>T
XR_931930.1:n.1297C>T
XR_931930.2:n.1298C>T
XR_931931.1:n.1297C>T