Canonical Allele Identifier: CA391381902

Gene: HERC2

Linked Data

• dbSNP Id: rs1891251364
• gnomAD v4: 15-28141777-T-C
• MyVariant Identifiers: chr15:g.28386923T>C (hg19) ; chr15:g.28141777T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141777T>C , CM000677.2:g.28141777T>C	GRCh38
NC_000015.9:g.28386923T>C , CM000677.1:g.28386923T>C	GRCh37
NC_000015.8:g.26060518T>C	NCBI36
NG_016355.1:g.185373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11770A>G MANE Select	ENSP00000261609.8:p.Ile3924Val
ENST00000650509.1:c.3481A>G	ENSP00000496936.1:p.Ile1161Val
ENST00000261609.11:c.11770A>G	ENSP00000261609.7:p.Ile3924Val
ENST00000564519.1:n.285A>G
NM_004667.5:c.11770A>G	NP_004658.3:p.Ile3924Val
XM_005268276.3:c.11656A>G	XP_005268333.1:p.Ile3886Val
XM_005268277.3:c.11656A>G	XP_005268334.1:p.Ile3886Val
XM_006720726.2:c.11755A>G	XP_006720789.1:p.Ile3919Val
XM_006720727.2:c.11512A>G	XP_006720790.1:p.Ile3838Val
XM_011522131.1:c.11287A>G	XP_011520433.1:p.Ile3763Val
XM_011522132.1:c.9286A>G	XP_011520434.1:p.Ile3096Val
XM_011522133.1:c.8515A>G	XP_011520435.1:p.Ile2839Val
XM_011522134.1:c.5887A>G	XP_011520436.1:p.Ile1963Val
XM_005268276.5:c.11656A>G	XP_005268333.1:p.Ile3886Val
XM_006720726.3:c.11755A>G	XP_006720789.1:p.Ile3919Val
XM_006720727.3:c.11512A>G	XP_006720790.1:p.Ile3838Val
XM_017022695.1:c.11656A>G	XP_016878184.1:p.Ile3886Val
XM_017022696.1:c.11656A>G	XP_016878185.1:p.Ile3886Val
XM_017022697.1:c.4936A>G	XP_016878186.1:p.Ile1646Val
XM_017022698.1:c.4936A>G	XP_016878187.1:p.Ile1646Val
NM_004667.6:c.11770A>G MANE Select	NP_004658.3:p.Ile3924Val