Canonical Allele Identifier: CA616719211

Gene: HERC2

Linked Data

• dbSNP Id: rs1246889120
• gnomAD v2: 15-28488897-A-T
• gnomAD v3: 15-28243751-A-T
• gnomAD v4: 15-28243751-A-T
• MyVariant Identifiers: chr15:g.28488897A>T (hg19) ; chr15:g.28243751A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28243751A>T , CM000677.2:g.28243751A>T	GRCh38
NC_000015.9:g.28488897A>T , CM000677.1:g.28488897A>T	GRCh37
NC_000015.8:g.26162492A>T	NCBI36
NG_016355.1:g.83399T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.3577+2130T>A MANE Select	ENSP00000261609.8:n.3577+2130T>A
ENST00000261609.11:c.3577+2130T>A	ENSP00000261609.7:n.3577+2130T>A
NM_004667.5:c.3577+2130T>A	NP_004658.3:n.3577+2130T>A
XM_005268276.3:c.3463+2130T>A	XP_005268333.1:n.3463+2130T>A
XM_005268277.3:c.3463+2130T>A	XP_005268334.1:n.3463+2130T>A
XM_006720726.2:c.3577+2130T>A	XP_006720789.1:n.3577+2130T>A
XM_006720727.2:c.3319+2130T>A	XP_006720790.1:n.3319+2130T>A
XM_011522131.1:c.3094+2130T>A	XP_011520433.1:n.3094+2130T>A
XM_011522132.1:c.1093+2130T>A	XP_011520434.1:n.1093+2130T>A
XM_011522133.1:c.323-4979T>A	XP_011520435.1:n.323-4979T>A
XM_011522135.1:c.3577+2130T>A	XP_011520437.1:n.3577+2130T>A
XM_011522136.1:c.3577+2130T>A	XP_011520438.1:n.3577+2130T>A
XM_011522137.1:c.3577+2130T>A	XP_011520439.1:n.3577+2130T>A
XR_931930.1:n.3706+2130T>A
XR_931931.1:n.3706+2130T>A
XM_005268276.5:c.3463+2130T>A	XP_005268333.1:n.3463+2130T>A
XM_006720726.3:c.3577+2130T>A	XP_006720789.1:n.3577+2130T>A
XM_006720727.3:c.3319+2130T>A	XP_006720790.1:n.3319+2130T>A
XM_017022695.1:c.3463+2130T>A	XP_016878184.1:n.3463+2130T>A
XM_017022696.1:c.3463+2130T>A	XP_016878185.1:n.3463+2130T>A
XR_001751410.1:n.3707+2130T>A
XR_931930.2:n.3707+2130T>A
NM_004667.6:c.3577+2130T>A MANE Select	NP_004658.3:n.3577+2130T>A