Canonical Allele Identifier: CA489234665

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141465-T-C
• MyVariant Identifiers: chr15:g.28386611T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141465T>C , CM000677.2:g.28141465T>C	GRCh38
NC_000015.9:g.28386611T>C , CM000677.1:g.28386611T>C	GRCh37
NC_000015.8:g.26060206T>C	NCBI36
NG_016355.1:g.185685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11982A>G MANE Select	ENSP00000261609.8:p.Glu3994=
ENST00000650509.1:c.3693A>G	ENSP00000496936.1:p.Glu1231=
ENST00000261609.11:c.11982A>G	ENSP00000261609.7:p.Glu3994=
NM_004667.5:c.11982A>G	NP_004658.3:p.Glu3994=
XM_005268276.3:c.11868A>G	XP_005268333.1:p.Glu3956=
XM_005268277.3:c.11868A>G	XP_005268334.1:p.Glu3956=
XM_006720726.2:c.11967A>G	XP_006720789.1:p.Glu3989=
XM_006720727.2:c.11724A>G	XP_006720790.1:p.Glu3908=
XM_011522131.1:c.11499A>G	XP_011520433.1:p.Glu3833=
XM_011522132.1:c.9498A>G	XP_011520434.1:p.Glu3166=
XM_011522133.1:c.8727A>G	XP_011520435.1:p.Glu2909=
XM_011522134.1:c.6099A>G	XP_011520436.1:p.Glu2033=
XM_005268276.5:c.11868A>G	XP_005268333.1:p.Glu3956=
XM_006720726.3:c.11967A>G	XP_006720789.1:p.Glu3989=
XM_006720727.3:c.11724A>G	XP_006720790.1:p.Glu3908=
XM_017022695.1:c.11868A>G	XP_016878184.1:p.Glu3956=
XM_017022696.1:c.11868A>G	XP_016878185.1:p.Glu3956=
XM_017022697.1:c.5148A>G	XP_016878186.1:p.Glu1716=
XM_017022698.1:c.5148A>G	XP_016878187.1:p.Glu1716=
NM_004667.6:c.11982A>G MANE Select	NP_004658.3:p.Glu3994=