Canonical Allele Identifier: CA391381218

Gene: HERC2

Linked Data

• dbSNP Id: rs1891220497
• gnomAD v3: 15-28141505-G-C
• gnomAD v4: 15-28141505-G-C
• MyVariant Identifiers: chr15:g.28386651G>C (hg19) ; chr15:g.28141505G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141505G>C , CM000677.2:g.28141505G>C	GRCh38
NC_000015.9:g.28386651G>C , CM000677.1:g.28386651G>C	GRCh37
NC_000015.8:g.26060246G>C	NCBI36
NG_016355.1:g.185645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11942C>G MANE Select	ENSP00000261609.8:p.Ala3981Gly
ENST00000650509.1:c.3653C>G	ENSP00000496936.1:p.Ala1218Gly
ENST00000261609.11:c.11942C>G	ENSP00000261609.7:p.Ala3981Gly
NM_004667.5:c.11942C>G	NP_004658.3:p.Ala3981Gly
XM_005268276.3:c.11828C>G	XP_005268333.1:p.Ala3943Gly
XM_005268277.3:c.11828C>G	XP_005268334.1:p.Ala3943Gly
XM_006720726.2:c.11927C>G	XP_006720789.1:p.Ala3976Gly
XM_006720727.2:c.11684C>G	XP_006720790.1:p.Ala3895Gly
XM_011522131.1:c.11459C>G	XP_011520433.1:p.Ala3820Gly
XM_011522132.1:c.9458C>G	XP_011520434.1:p.Ala3153Gly
XM_011522133.1:c.8687C>G	XP_011520435.1:p.Ala2896Gly
XM_011522134.1:c.6059C>G	XP_011520436.1:p.Ala2020Gly
XM_005268276.5:c.11828C>G	XP_005268333.1:p.Ala3943Gly
XM_006720726.3:c.11927C>G	XP_006720789.1:p.Ala3976Gly
XM_006720727.3:c.11684C>G	XP_006720790.1:p.Ala3895Gly
XM_017022695.1:c.11828C>G	XP_016878184.1:p.Ala3943Gly
XM_017022696.1:c.11828C>G	XP_016878185.1:p.Ala3943Gly
XM_017022697.1:c.5108C>G	XP_016878186.1:p.Ala1703Gly
XM_017022698.1:c.5108C>G	XP_016878187.1:p.Ala1703Gly
NM_004667.6:c.11942C>G MANE Select	NP_004658.3:p.Ala3981Gly