Canonical Allele Identifier: CA489234745

Gene: HERC2

Linked Data

• COSMIC: COSM700276 ; COSM4861005
• MyVariant Identifiers: chr15:g.28386674G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141528G>C , CM000677.2:g.28141528G>C	GRCh38
NC_000015.9:g.28386674G>C , CM000677.1:g.28386674G>C	GRCh37
NC_000015.8:g.26060269G>C	NCBI36
NG_016355.1:g.185622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11919C>G MANE Select	ENSP00000261609.8:p.Val3973=
ENST00000650509.1:c.3630C>G	ENSP00000496936.1:p.Val1210=
ENST00000261609.11:c.11919C>G	ENSP00000261609.7:p.Val3973=
NM_004667.5:c.11919C>G	NP_004658.3:p.Val3973=
XM_005268276.3:c.11805C>G	XP_005268333.1:p.Val3935=
XM_005268277.3:c.11805C>G	XP_005268334.1:p.Val3935=
XM_006720726.2:c.11904C>G	XP_006720789.1:p.Val3968=
XM_006720727.2:c.11661C>G	XP_006720790.1:p.Val3887=
XM_011522131.1:c.11436C>G	XP_011520433.1:p.Val3812=
XM_011522132.1:c.9435C>G	XP_011520434.1:p.Val3145=
XM_011522133.1:c.8664C>G	XP_011520435.1:p.Val2888=
XM_011522134.1:c.6036C>G	XP_011520436.1:p.Val2012=
XM_005268276.5:c.11805C>G	XP_005268333.1:p.Val3935=
XM_006720726.3:c.11904C>G	XP_006720789.1:p.Val3968=
XM_006720727.3:c.11661C>G	XP_006720790.1:p.Val3887=
XM_017022695.1:c.11805C>G	XP_016878184.1:p.Val3935=
XM_017022696.1:c.11805C>G	XP_016878185.1:p.Val3935=
XM_017022697.1:c.5085C>G	XP_016878186.1:p.Val1695=
XM_017022698.1:c.5085C>G	XP_016878187.1:p.Val1695=
NM_004667.6:c.11919C>G MANE Select	NP_004658.3:p.Val3973=