Canonical Allele Identifier: CA489235023

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141763-C-T
• MyVariant Identifiers: chr15:g.28386909C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141763C>T , CM000677.2:g.28141763C>T	GRCh38
NC_000015.9:g.28386909C>T , CM000677.1:g.28386909C>T	GRCh37
NC_000015.8:g.26060504C>T	NCBI36
NG_016355.1:g.185387G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11784G>A MANE Select	ENSP00000261609.8:p.Glu3928=
ENST00000650509.1:c.3495G>A	ENSP00000496936.1:p.Glu1165=
ENST00000261609.11:c.11784G>A	ENSP00000261609.7:p.Glu3928=
ENST00000564519.1:n.299G>A
NM_004667.5:c.11784G>A	NP_004658.3:p.Glu3928=
XM_005268276.3:c.11670G>A	XP_005268333.1:p.Glu3890=
XM_005268277.3:c.11670G>A	XP_005268334.1:p.Glu3890=
XM_006720726.2:c.11769G>A	XP_006720789.1:p.Glu3923=
XM_006720727.2:c.11526G>A	XP_006720790.1:p.Glu3842=
XM_011522131.1:c.11301G>A	XP_011520433.1:p.Glu3767=
XM_011522132.1:c.9300G>A	XP_011520434.1:p.Glu3100=
XM_011522133.1:c.8529G>A	XP_011520435.1:p.Glu2843=
XM_011522134.1:c.5901G>A	XP_011520436.1:p.Glu1967=
XM_005268276.5:c.11670G>A	XP_005268333.1:p.Glu3890=
XM_006720726.3:c.11769G>A	XP_006720789.1:p.Glu3923=
XM_006720727.3:c.11526G>A	XP_006720790.1:p.Glu3842=
XM_017022695.1:c.11670G>A	XP_016878184.1:p.Glu3890=
XM_017022696.1:c.11670G>A	XP_016878185.1:p.Glu3890=
XM_017022697.1:c.4950G>A	XP_016878186.1:p.Glu1650=
XM_017022698.1:c.4950G>A	XP_016878187.1:p.Glu1650=
NM_004667.6:c.11784G>A MANE Select	NP_004658.3:p.Glu3928=