Canonical Allele Identifier: CA488962633

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141838-C-T
• MyVariant Identifiers: chr15:g.28386984C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141838C>T , CM000677.2:g.28141838C>T	GRCh38
NC_000015.9:g.28386984C>T , CM000677.1:g.28386984C>T	GRCh37
NC_000015.8:g.26060579C>T	NCBI36
NG_016355.1:g.185312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11709G>A MANE Select	ENSP00000261609.8:p.Lys3903=
ENST00000650509.1:c.3420G>A	ENSP00000496936.1:p.Lys1140=
ENST00000261609.11:c.11709G>A	ENSP00000261609.7:p.Lys3903=
ENST00000564519.1:n.224G>A
NM_004667.5:c.11709G>A	NP_004658.3:p.Lys3903=
XM_005268276.3:c.11595G>A	XP_005268333.1:p.Lys3865=
XM_005268277.3:c.11595G>A	XP_005268334.1:p.Lys3865=
XM_006720726.2:c.11694G>A	XP_006720789.1:p.Lys3898=
XM_006720727.2:c.11451G>A	XP_006720790.1:p.Lys3817=
XM_011522131.1:c.11226G>A	XP_011520433.1:p.Lys3742=
XM_011522132.1:c.9225G>A	XP_011520434.1:p.Lys3075=
XM_011522133.1:c.8454G>A	XP_011520435.1:p.Lys2818=
XM_011522134.1:c.5826G>A	XP_011520436.1:p.Lys1942=
XM_005268276.5:c.11595G>A	XP_005268333.1:p.Lys3865=
XM_006720726.3:c.11694G>A	XP_006720789.1:p.Lys3898=
XM_006720727.3:c.11451G>A	XP_006720790.1:p.Lys3817=
XM_017022695.1:c.11595G>A	XP_016878184.1:p.Lys3865=
XM_017022696.1:c.11595G>A	XP_016878185.1:p.Lys3865=
XM_017022697.1:c.4875G>A	XP_016878186.1:p.Lys1625=
XM_017022698.1:c.4875G>A	XP_016878187.1:p.Lys1625=
NM_004667.6:c.11709G>A MANE Select	NP_004658.3:p.Lys3903=