Canonical Allele Identifier: CA391381015

Gene: HERC2

Linked Data

• dbSNP Id: rs1168531134
• gnomAD v2: 15-28386615-C-T
• gnomAD v4: 15-28141469-C-T
• MyVariant Identifiers: chr15:g.28386615C>T (hg19) ; chr15:g.28141469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141469C>T , CM000677.2:g.28141469C>T	GRCh38
NC_000015.9:g.28386615C>T , CM000677.1:g.28386615C>T	GRCh37
NC_000015.8:g.26060210C>T	NCBI36
NG_016355.1:g.185681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11978G>A MANE Select	ENSP00000261609.8:p.Gly3993Glu
ENST00000650509.1:c.3689G>A	ENSP00000496936.1:p.Gly1230Glu
ENST00000261609.11:c.11978G>A	ENSP00000261609.7:p.Gly3993Glu
NM_004667.5:c.11978G>A	NP_004658.3:p.Gly3993Glu
XM_005268276.3:c.11864G>A	XP_005268333.1:p.Gly3955Glu
XM_005268277.3:c.11864G>A	XP_005268334.1:p.Gly3955Glu
XM_006720726.2:c.11963G>A	XP_006720789.1:p.Gly3988Glu
XM_006720727.2:c.11720G>A	XP_006720790.1:p.Gly3907Glu
XM_011522131.1:c.11495G>A	XP_011520433.1:p.Gly3832Glu
XM_011522132.1:c.9494G>A	XP_011520434.1:p.Gly3165Glu
XM_011522133.1:c.8723G>A	XP_011520435.1:p.Gly2908Glu
XM_011522134.1:c.6095G>A	XP_011520436.1:p.Gly2032Glu
XM_005268276.5:c.11864G>A	XP_005268333.1:p.Gly3955Glu
XM_006720726.3:c.11963G>A	XP_006720789.1:p.Gly3988Glu
XM_006720727.3:c.11720G>A	XP_006720790.1:p.Gly3907Glu
XM_017022695.1:c.11864G>A	XP_016878184.1:p.Gly3955Glu
XM_017022696.1:c.11864G>A	XP_016878185.1:p.Gly3955Glu
XM_017022697.1:c.5144G>A	XP_016878186.1:p.Gly1715Glu
XM_017022698.1:c.5144G>A	XP_016878187.1:p.Gly1715Glu
NM_004667.6:c.11978G>A MANE Select	NP_004658.3:p.Gly3993Glu