Canonical Allele Identifier: CA7440475

Gene: HERC2

Linked Data

• dbSNP Id: rs754080333
• ExAC: 15:28386944 C / T
• gnomAD v2: 15-28386944-C-T
• gnomAD v4: 15-28141798-C-T
• MyVariant Identifiers: chr15:g.28386944C>T (hg19) ; chr15:g.28141798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141798C>T , CM000677.2:g.28141798C>T	GRCh38
NC_000015.9:g.28386944C>T , CM000677.1:g.28386944C>T	GRCh37
NC_000015.8:g.26060539C>T	NCBI36
NG_016355.1:g.185352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11749G>A MANE Select	ENSP00000261609.8:p.Val3917Ile
ENST00000650509.1:c.3460G>A	ENSP00000496936.1:p.Val1154Ile
ENST00000261609.11:c.11749G>A	ENSP00000261609.7:p.Val3917Ile
ENST00000564519.1:n.264G>A
NM_004667.5:c.11749G>A	NP_004658.3:p.Val3917Ile
XM_005268276.3:c.11635G>A	XP_005268333.1:p.Val3879Ile
XM_005268277.3:c.11635G>A	XP_005268334.1:p.Val3879Ile
XM_006720726.2:c.11734G>A	XP_006720789.1:p.Val3912Ile
XM_006720727.2:c.11491G>A	XP_006720790.1:p.Val3831Ile
XM_011522131.1:c.11266G>A	XP_011520433.1:p.Val3756Ile
XM_011522132.1:c.9265G>A	XP_011520434.1:p.Val3089Ile
XM_011522133.1:c.8494G>A	XP_011520435.1:p.Val2832Ile
XM_011522134.1:c.5866G>A	XP_011520436.1:p.Val1956Ile
XM_005268276.5:c.11635G>A	XP_005268333.1:p.Val3879Ile
XM_006720726.3:c.11734G>A	XP_006720789.1:p.Val3912Ile
XM_006720727.3:c.11491G>A	XP_006720790.1:p.Val3831Ile
XM_017022695.1:c.11635G>A	XP_016878184.1:p.Val3879Ile
XM_017022696.1:c.11635G>A	XP_016878185.1:p.Val3879Ile
XM_017022697.1:c.4915G>A	XP_016878186.1:p.Val1639Ile
XM_017022698.1:c.4915G>A	XP_016878187.1:p.Val1639Ile
NM_004667.6:c.11749G>A MANE Select	NP_004658.3:p.Val3917Ile