Canonical Allele Identifier: CA391381982

Gene: HERC2

Linked Data

• ClinVar Variation Id: 2228662
• ClinVar RCV Id: RCV002692171
• dbSNP Id: rs1891254955
• gnomAD v4: 15-28141810-C-T
• MyVariant Identifiers: chr15:g.28386956C>T (hg19) ; chr15:g.28141810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141810C>T , CM000677.2:g.28141810C>T	GRCh38
NC_000015.9:g.28386956C>T , CM000677.1:g.28386956C>T	GRCh37
NC_000015.8:g.26060551C>T	NCBI36
NG_016355.1:g.185340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11737G>A MANE Select	ENSP00000261609.8:p.Glu3913Lys
ENST00000650509.1:c.3448G>A	ENSP00000496936.1:p.Glu1150Lys
ENST00000261609.11:c.11737G>A	ENSP00000261609.7:p.Glu3913Lys
ENST00000564519.1:n.252G>A
NM_004667.5:c.11737G>A	NP_004658.3:p.Glu3913Lys
XM_005268276.3:c.11623G>A	XP_005268333.1:p.Glu3875Lys
XM_005268277.3:c.11623G>A	XP_005268334.1:p.Glu3875Lys
XM_006720726.2:c.11722G>A	XP_006720789.1:p.Glu3908Lys
XM_006720727.2:c.11479G>A	XP_006720790.1:p.Glu3827Lys
XM_011522131.1:c.11254G>A	XP_011520433.1:p.Glu3752Lys
XM_011522132.1:c.9253G>A	XP_011520434.1:p.Glu3085Lys
XM_011522133.1:c.8482G>A	XP_011520435.1:p.Glu2828Lys
XM_011522134.1:c.5854G>A	XP_011520436.1:p.Glu1952Lys
XM_005268276.5:c.11623G>A	XP_005268333.1:p.Glu3875Lys
XM_006720726.3:c.11722G>A	XP_006720789.1:p.Glu3908Lys
XM_006720727.3:c.11479G>A	XP_006720790.1:p.Glu3827Lys
XM_017022695.1:c.11623G>A	XP_016878184.1:p.Glu3875Lys
XM_017022696.1:c.11623G>A	XP_016878185.1:p.Glu3875Lys
XM_017022697.1:c.4903G>A	XP_016878186.1:p.Glu1635Lys
XM_017022698.1:c.4903G>A	XP_016878187.1:p.Glu1635Lys
NM_004667.6:c.11737G>A MANE Select	NP_004658.3:p.Glu3913Lys