Canonical Allele Identifier: CA391372026

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28117148G>A , CM000677.2:g.28117148G>A	GRCh38
NC_000015.9:g.28362294G>A , CM000677.1:g.28362294G>A	GRCh37
NC_000015.8:g.26035889G>A	NCBI36
NG_016355.1:g.210002C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004667.6:c.13279C>T MANE Select	NP_004658.3:p.Arg4427Ter
ENST00000261609.13:c.13279C>T MANE Select	ENSP00000261609.8:p.Arg4427Ter
NM_004667.5:c.13279C>T	NP_004658.3:p.Arg4427Ter
ENST00000261609.11:c.13279C>T	ENSP00000261609.7:p.Arg4427Ter
ENST00000566635.5:n.404C>T
ENST00000568206.1:n.1274C>T
ENST00000650509.1:c.4758C>T	ENSP00000496936.1:n.4758C>T
XM_005268276.3:c.13165C>T	XP_005268333.1:p.Arg4389Ter
XM_005268276.5:c.13165C>T	XP_005268333.1:p.Arg4389Ter
XM_005268277.3:c.13165C>T	XP_005268334.1:p.Arg4389Ter
XM_006720726.2:c.13264C>T	XP_006720789.1:p.Arg4422Ter
XM_006720726.3:c.13264C>T	XP_006720789.1:p.Arg4422Ter
XM_006720727.2:c.13021C>T	XP_006720790.1:p.Arg4341Ter
XM_006720727.3:c.13021C>T	XP_006720790.1:p.Arg4341Ter
XM_011522131.1:c.12796C>T	XP_011520433.1:p.Arg4266Ter
XM_011522132.1:c.10795C>T	XP_011520434.1:p.Arg3599Ter
XM_011522133.1:c.10024C>T	XP_011520435.1:p.Arg3342Ter
XM_011522134.1:c.7396C>T	XP_011520436.1:p.Arg2466Ter
XM_017022695.1:c.13165C>T	XP_016878184.1:p.Arg4389Ter
XM_017022696.1:c.13165C>T	XP_016878185.1:p.Arg4389Ter
XM_017022697.1:c.6445C>T	XP_016878186.1:p.Arg2149Ter
XM_017022698.1:c.6445C>T	XP_016878187.1:p.Arg2149Ter