Canonical Allele Identifier: CA2730450327

Gene: HERC2

Linked Data

• dbSNP Id: rs2140768221

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28243705G>T , CM000677.2:g.28243705G>T	GRCh38
NC_000015.9:g.28488851G>T , CM000677.1:g.28488851G>T	GRCh37
NC_000015.8:g.26162446G>T	NCBI36
NG_016355.1:g.83445C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.3577+2176C>A MANE Select	ENSP00000261609.8:n.3577+2176C>A
ENST00000261609.11:c.3577+2176C>A	ENSP00000261609.7:n.3577+2176C>A
NM_004667.5:c.3577+2176C>A	NP_004658.3:n.3577+2176C>A
XM_005268276.3:c.3463+2176C>A	XP_005268333.1:n.3463+2176C>A
XM_005268277.3:c.3463+2176C>A	XP_005268334.1:n.3463+2176C>A
XM_006720726.2:c.3577+2176C>A	XP_006720789.1:n.3577+2176C>A
XM_006720727.2:c.3319+2176C>A	XP_006720790.1:n.3319+2176C>A
XM_011522131.1:c.3094+2176C>A	XP_011520433.1:n.3094+2176C>A
XM_011522132.1:c.1093+2176C>A	XP_011520434.1:n.1093+2176C>A
XM_011522133.1:c.323-4933C>A	XP_011520435.1:n.323-4933C>A
XM_011522135.1:c.3577+2176C>A	XP_011520437.1:n.3577+2176C>A
XM_011522136.1:c.3577+2176C>A	XP_011520438.1:n.3577+2176C>A
XM_011522137.1:c.3577+2176C>A	XP_011520439.1:n.3577+2176C>A
XR_931930.1:n.3706+2176C>A
XR_931931.1:n.3706+2176C>A
XM_005268276.5:c.3463+2176C>A	XP_005268333.1:n.3463+2176C>A
XM_006720726.3:c.3577+2176C>A	XP_006720789.1:n.3577+2176C>A
XM_006720727.3:c.3319+2176C>A	XP_006720790.1:n.3319+2176C>A
XM_017022695.1:c.3463+2176C>A	XP_016878184.1:n.3463+2176C>A
XM_017022696.1:c.3463+2176C>A	XP_016878185.1:n.3463+2176C>A
XR_001751410.1:n.3707+2176C>A
XR_931930.2:n.3707+2176C>A
NM_004667.6:c.3577+2176C>A MANE Select	NP_004658.3:n.3577+2176C>A