Canonical Allele Identifier: CA489234648

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386593C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141447C>T , CM000677.2:g.28141447C>T	GRCh38
NC_000015.9:g.28386593C>T , CM000677.1:g.28386593C>T	GRCh37
NC_000015.8:g.26060188C>T	NCBI36
NG_016355.1:g.185703G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.12000G>A MANE Select	ENSP00000261609.8:p.Val4000=
ENST00000650509.1:c.3711G>A	ENSP00000496936.1:p.Val1237=
ENST00000261609.11:c.12000G>A	ENSP00000261609.7:p.Val4000=
NM_004667.5:c.12000G>A	NP_004658.3:p.Val4000=
XM_005268276.3:c.11886G>A	XP_005268333.1:p.Val3962=
XM_005268277.3:c.11886G>A	XP_005268334.1:p.Val3962=
XM_006720726.2:c.11985G>A	XP_006720789.1:p.Val3995=
XM_006720727.2:c.11742G>A	XP_006720790.1:p.Val3914=
XM_011522131.1:c.11517G>A	XP_011520433.1:p.Val3839=
XM_011522132.1:c.9516G>A	XP_011520434.1:p.Val3172=
XM_011522133.1:c.8745G>A	XP_011520435.1:p.Val2915=
XM_011522134.1:c.6117G>A	XP_011520436.1:p.Val2039=
XM_005268276.5:c.11886G>A	XP_005268333.1:p.Val3962=
XM_006720726.3:c.11985G>A	XP_006720789.1:p.Val3995=
XM_006720727.3:c.11742G>A	XP_006720790.1:p.Val3914=
XM_017022695.1:c.11886G>A	XP_016878184.1:p.Val3962=
XM_017022696.1:c.11886G>A	XP_016878185.1:p.Val3962=
XM_017022697.1:c.5166G>A	XP_016878186.1:p.Val1722=
XM_017022698.1:c.5166G>A	XP_016878187.1:p.Val1722=
NM_004667.6:c.12000G>A MANE Select	NP_004658.3:p.Val4000=