Canonical Allele Identifier: CA489234674

Gene: HERC2

Linked Data

• COSMIC: COSM1372235 ; COSM4948366
• MyVariant Identifiers: chr15:g.28386620G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141474G>T , CM000677.2:g.28141474G>T	GRCh38
NC_000015.9:g.28386620G>T , CM000677.1:g.28386620G>T	GRCh37
NC_000015.8:g.26060215G>T	NCBI36
NG_016355.1:g.185676C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11973C>A MANE Select	ENSP00000261609.8:p.Ile3991=
ENST00000650509.1:c.3684C>A	ENSP00000496936.1:p.Ile1228=
ENST00000261609.11:c.11973C>A	ENSP00000261609.7:p.Ile3991=
NM_004667.5:c.11973C>A	NP_004658.3:p.Ile3991=
XM_005268276.3:c.11859C>A	XP_005268333.1:p.Ile3953=
XM_005268277.3:c.11859C>A	XP_005268334.1:p.Ile3953=
XM_006720726.2:c.11958C>A	XP_006720789.1:p.Ile3986=
XM_006720727.2:c.11715C>A	XP_006720790.1:p.Ile3905=
XM_011522131.1:c.11490C>A	XP_011520433.1:p.Ile3830=
XM_011522132.1:c.9489C>A	XP_011520434.1:p.Ile3163=
XM_011522133.1:c.8718C>A	XP_011520435.1:p.Ile2906=
XM_011522134.1:c.6090C>A	XP_011520436.1:p.Ile2030=
XM_005268276.5:c.11859C>A	XP_005268333.1:p.Ile3953=
XM_006720726.3:c.11958C>A	XP_006720789.1:p.Ile3986=
XM_006720727.3:c.11715C>A	XP_006720790.1:p.Ile3905=
XM_017022695.1:c.11859C>A	XP_016878184.1:p.Ile3953=
XM_017022696.1:c.11859C>A	XP_016878185.1:p.Ile3953=
XM_017022697.1:c.5139C>A	XP_016878186.1:p.Ile1713=
XM_017022698.1:c.5139C>A	XP_016878187.1:p.Ile1713=
NM_004667.6:c.11973C>A MANE Select	NP_004658.3:p.Ile3991=