Canonical Allele Identifier: CA391380822

Gene: HERC2

Linked Data

• COSMIC: COSM4914066 ; COSM4914067
• MyVariant Identifiers: chr15:g.28386583C>T (hg19) ; chr15:g.28141437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141437C>T , CM000677.2:g.28141437C>T	GRCh38
NC_000015.9:g.28386583C>T , CM000677.1:g.28386583C>T	GRCh37
NC_000015.8:g.26060178C>T	NCBI36
NG_016355.1:g.185713G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.12010G>A MANE Select	ENSP00000261609.8:p.Gly4004Arg
ENST00000650509.1:c.3721G>A	ENSP00000496936.1:p.Gly1241Arg
ENST00000261609.11:c.12010G>A	ENSP00000261609.7:p.Gly4004Arg
NM_004667.5:c.12010G>A	NP_004658.3:p.Gly4004Arg
XM_005268276.3:c.11896G>A	XP_005268333.1:p.Gly3966Arg
XM_005268277.3:c.11896G>A	XP_005268334.1:p.Gly3966Arg
XM_006720726.2:c.11995G>A	XP_006720789.1:p.Gly3999Arg
XM_006720727.2:c.11752G>A	XP_006720790.1:p.Gly3918Arg
XM_011522131.1:c.11527G>A	XP_011520433.1:p.Gly3843Arg
XM_011522132.1:c.9526G>A	XP_011520434.1:p.Gly3176Arg
XM_011522133.1:c.8755G>A	XP_011520435.1:p.Gly2919Arg
XM_011522134.1:c.6127G>A	XP_011520436.1:p.Gly2043Arg
XM_005268276.5:c.11896G>A	XP_005268333.1:p.Gly3966Arg
XM_006720726.3:c.11995G>A	XP_006720789.1:p.Gly3999Arg
XM_006720727.3:c.11752G>A	XP_006720790.1:p.Gly3918Arg
XM_017022695.1:c.11896G>A	XP_016878184.1:p.Gly3966Arg
XM_017022696.1:c.11896G>A	XP_016878185.1:p.Gly3966Arg
XM_017022697.1:c.5176G>A	XP_016878186.1:p.Gly1726Arg
XM_017022698.1:c.5176G>A	XP_016878187.1:p.Gly1726Arg
NM_004667.6:c.12010G>A MANE Select	NP_004658.3:p.Gly4004Arg