Canonical Allele Identifier: CA7441490

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28192013C>T , CM000677.2:g.28192013C>T	GRCh38
NC_000015.9:g.28437159C>T , CM000677.1:g.28437159C>T	GRCh37
NC_000015.8:g.26110754C>T	NCBI36
NG_016355.1:g.135137G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004667.6:c.8399G>A MANE Select	NP_004658.3:p.Arg2800His
ENST00000261609.13:c.8399G>A MANE Select	ENSP00000261609.8:p.Arg2800His
NM_004667.5:c.8399G>A	NP_004658.3:p.Arg2800His
ENST00000261609.11:c.8399G>A	ENSP00000261609.7:p.Arg2800His
ENST00000567869.1:n.2509G>A
ENST00000650509.1:c.110G>A	ENSP00000496936.1:p.Arg37His
XM_005268276.3:c.8285G>A	XP_005268333.1:p.Arg2762His
XM_005268276.5:c.8285G>A	XP_005268333.1:p.Arg2762His
XM_005268277.3:c.8285G>A	XP_005268334.1:p.Arg2762His
XM_006720726.2:c.8384G>A	XP_006720789.1:p.Arg2795His
XM_006720726.3:c.8384G>A	XP_006720789.1:p.Arg2795His
XM_006720727.2:c.8141G>A	XP_006720790.1:p.Arg2714His
XM_006720727.3:c.8141G>A	XP_006720790.1:p.Arg2714His
XM_011522131.1:c.7916G>A	XP_011520433.1:p.Arg2639His
XM_011522132.1:c.5915G>A	XP_011520434.1:p.Arg1972His
XM_011522133.1:c.5144G>A	XP_011520435.1:p.Arg1715His
XM_011522134.1:c.2516G>A	XP_011520436.1:p.Arg839His
XM_017022695.1:c.8285G>A	XP_016878184.1:p.Arg2762His
XM_017022696.1:c.8285G>A	XP_016878185.1:p.Arg2762His
XM_017022697.1:c.1565G>A	XP_016878186.1:p.Arg522His
XM_017022698.1:c.1565G>A	XP_016878187.1:p.Arg522His
XR_001751410.1:n.8420G>A
XR_931930.1:n.8528G>A
XR_931930.2:n.8529G>A
XR_931931.1:n.8419G>A