Canonical Allele Identifier: CA267957298

Gene: HERC2

Linked Data

• dbSNP Id: rs567027582
• gnomAD v3: 15-28285126-C-A
• gnomAD v4: 15-28285126-C-A
• MyVariant Identifiers: chr15:g.28530272C>A (hg19) ; chr15:g.28285126C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28285126C>A , CM000677.2:g.28285126C>A	GRCh38
NC_000015.9:g.28530272C>A , CM000677.1:g.28530272C>A	GRCh37
NC_000015.8:g.26203867C>A	NCBI36
NG_016355.1:g.42024G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.323-4839G>T MANE Select	ENSP00000261609.8:n.323-4839G>T
ENST00000261609.11:c.323-4839G>T	ENSP00000261609.7:n.323-4839G>T
ENST00000564383.1:n.218-4839G>T
ENST00000564734.5:c.*193-4839G>T	ENSP00000456237.1:n.*193-4839G>T
NM_004667.5:c.323-4839G>T	NP_004658.3:n.323-4839G>T
XM_005268276.3:c.209-4839G>T	XP_005268333.1:n.209-4839G>T
XM_005268277.3:c.209-4839G>T	XP_005268334.1:n.209-4839G>T
XM_006720726.2:c.323-4839G>T	XP_006720789.1:n.323-4839G>T
XM_006720727.2:c.323-4839G>T	XP_006720790.1:n.323-4839G>T
XM_011522133.1:c.322+7762G>T	XP_011520435.1:n.322+7762G>T
XM_011522135.1:c.323-4839G>T	XP_011520437.1:n.323-4839G>T
XM_011522136.1:c.323-4839G>T	XP_011520438.1:n.323-4839G>T
XM_011522137.1:c.323-4839G>T	XP_011520439.1:n.323-4839G>T
XR_931930.1:n.452-4839G>T
XR_931931.1:n.452-4839G>T
XM_005268276.5:c.209-4839G>T	XP_005268333.1:n.209-4839G>T
XM_006720726.3:c.323-4839G>T	XP_006720789.1:n.323-4839G>T
XM_006720727.3:c.323-4839G>T	XP_006720790.1:n.323-4839G>T
XM_017022695.1:c.209-4839G>T	XP_016878184.1:n.209-4839G>T
XM_017022696.1:c.209-4839G>T	XP_016878185.1:n.209-4839G>T
XR_001751410.1:n.453-4839G>T
XR_931930.2:n.453-4839G>T
NM_004667.6:c.323-4839G>T MANE Select	NP_004658.3:n.323-4839G>T