Canonical Allele Identifier: CA7439894

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28115539C>T , CM000677.2:g.28115539C>T	GRCh38
NC_000015.9:g.28360685C>T , CM000677.1:g.28360685C>T	GRCh37
NC_000015.8:g.26034280C>T	NCBI36
NG_016355.1:g.211611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.13612G>A MANE Select	ENSP00000261609.8:p.Val4538Met
ENST00000650509.1:c.5091G>A	ENSP00000496936.1:n.5091G>A
ENST00000261609.11:c.13612G>A	ENSP00000261609.7:p.Val4538Met
ENST00000566635.5:n.737G>A
ENST00000568206.1:n.1760G>A
NM_004667.5:c.13612G>A	NP_004658.3:p.Val4538Met
XM_005268276.3:c.13498G>A	XP_005268333.1:p.Val4500Met
XM_005268277.3:c.13498G>A	XP_005268334.1:p.Val4500Met
XM_006720726.2:c.13597G>A	XP_006720789.1:p.Val4533Met
XM_006720727.2:c.13354G>A	XP_006720790.1:p.Val4452Met
XM_011522131.1:c.13129G>A	XP_011520433.1:p.Val4377Met
XM_011522132.1:c.11128G>A	XP_011520434.1:p.Val3710Met
XM_011522133.1:c.10357G>A	XP_011520435.1:p.Val3453Met
XM_011522134.1:c.7729G>A	XP_011520436.1:p.Val2577Met
XM_005268276.5:c.13498G>A	XP_005268333.1:p.Val4500Met
XM_006720726.3:c.13597G>A	XP_006720789.1:p.Val4533Met
XM_006720727.3:c.13354G>A	XP_006720790.1:p.Val4452Met
XM_017022695.1:c.13498G>A	XP_016878184.1:p.Val4500Met
XM_017022696.1:c.13498G>A	XP_016878185.1:p.Val4500Met
XM_017022697.1:c.6778G>A	XP_016878186.1:p.Val2260Met
XM_017022698.1:c.6778G>A	XP_016878187.1:p.Val2260Met
NM_004667.6:c.13612G>A MANE Select	NP_004658.3:p.Val4538Met