Canonical Allele Identifier: CA391381024

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386616C>G (hg19) ; chr15:g.28141470C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141470C>G , CM000677.2:g.28141470C>G	GRCh38
NC_000015.9:g.28386616C>G , CM000677.1:g.28386616C>G	GRCh37
NC_000015.8:g.26060211C>G	NCBI36
NG_016355.1:g.185680G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11977G>C MANE Select	ENSP00000261609.8:p.Gly3993Arg
ENST00000650509.1:c.3688G>C	ENSP00000496936.1:p.Gly1230Arg
ENST00000261609.11:c.11977G>C	ENSP00000261609.7:p.Gly3993Arg
NM_004667.5:c.11977G>C	NP_004658.3:p.Gly3993Arg
XM_005268276.3:c.11863G>C	XP_005268333.1:p.Gly3955Arg
XM_005268277.3:c.11863G>C	XP_005268334.1:p.Gly3955Arg
XM_006720726.2:c.11962G>C	XP_006720789.1:p.Gly3988Arg
XM_006720727.2:c.11719G>C	XP_006720790.1:p.Gly3907Arg
XM_011522131.1:c.11494G>C	XP_011520433.1:p.Gly3832Arg
XM_011522132.1:c.9493G>C	XP_011520434.1:p.Gly3165Arg
XM_011522133.1:c.8722G>C	XP_011520435.1:p.Gly2908Arg
XM_011522134.1:c.6094G>C	XP_011520436.1:p.Gly2032Arg
XM_005268276.5:c.11863G>C	XP_005268333.1:p.Gly3955Arg
XM_006720726.3:c.11962G>C	XP_006720789.1:p.Gly3988Arg
XM_006720727.3:c.11719G>C	XP_006720790.1:p.Gly3907Arg
XM_017022695.1:c.11863G>C	XP_016878184.1:p.Gly3955Arg
XM_017022696.1:c.11863G>C	XP_016878185.1:p.Gly3955Arg
XM_017022697.1:c.5143G>C	XP_016878186.1:p.Gly1715Arg
XM_017022698.1:c.5143G>C	XP_016878187.1:p.Gly1715Arg
NM_004667.6:c.11977G>C MANE Select	NP_004658.3:p.Gly3993Arg