Canonical Allele Identifier: CA489234660

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386605G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141459G>T , CM000677.2:g.28141459G>T	GRCh38
NC_000015.9:g.28386605G>T , CM000677.1:g.28386605G>T	GRCh37
NC_000015.8:g.26060200G>T	NCBI36
NG_016355.1:g.185691C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11988C>A MANE Select	ENSP00000261609.8:p.Thr3996=
ENST00000650509.1:c.3699C>A	ENSP00000496936.1:p.Thr1233=
ENST00000261609.11:c.11988C>A	ENSP00000261609.7:p.Thr3996=
NM_004667.5:c.11988C>A	NP_004658.3:p.Thr3996=
XM_005268276.3:c.11874C>A	XP_005268333.1:p.Thr3958=
XM_005268277.3:c.11874C>A	XP_005268334.1:p.Thr3958=
XM_006720726.2:c.11973C>A	XP_006720789.1:p.Thr3991=
XM_006720727.2:c.11730C>A	XP_006720790.1:p.Thr3910=
XM_011522131.1:c.11505C>A	XP_011520433.1:p.Thr3835=
XM_011522132.1:c.9504C>A	XP_011520434.1:p.Thr3168=
XM_011522133.1:c.8733C>A	XP_011520435.1:p.Thr2911=
XM_011522134.1:c.6105C>A	XP_011520436.1:p.Thr2035=
XM_005268276.5:c.11874C>A	XP_005268333.1:p.Thr3958=
XM_006720726.3:c.11973C>A	XP_006720789.1:p.Thr3991=
XM_006720727.3:c.11730C>A	XP_006720790.1:p.Thr3910=
XM_017022695.1:c.11874C>A	XP_016878184.1:p.Thr3958=
XM_017022696.1:c.11874C>A	XP_016878185.1:p.Thr3958=
XM_017022697.1:c.5154C>A	XP_016878186.1:p.Thr1718=
XM_017022698.1:c.5154C>A	XP_016878187.1:p.Thr1718=
NM_004667.6:c.11988C>A MANE Select	NP_004658.3:p.Thr3996=