Canonical Allele Identifier: CA968043174

Gene: HERC2

Linked Data

• dbSNP Id: rs2075622579
• gnomAD v3: 15-28268235-C-A
• gnomAD v4: 15-28268235-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28268235C>A , CM000677.2:g.28268235C>A	GRCh38
NC_000015.9:g.28513381C>A , CM000677.1:g.28513381C>A	GRCh37
NC_000015.8:g.26186976C>A	NCBI36
NG_016355.1:g.58915G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.1598+230G>T MANE Select	ENSP00000261609.8:n.1598+230G>T
ENST00000261609.11:c.1598+230G>T	ENSP00000261609.7:n.1598+230G>T
ENST00000564734.5:c.*1468+230G>T	ENSP00000456237.1:n.*1468+230G>T
NM_004667.5:c.1598+230G>T	NP_004658.3:n.1598+230G>T
XM_005268276.3:c.1484+230G>T	XP_005268333.1:n.1484+230G>T
XM_005268277.3:c.1484+230G>T	XP_005268334.1:n.1484+230G>T
XM_006720726.2:c.1598+230G>T	XP_006720789.1:n.1598+230G>T
XM_006720727.2:c.1340+230G>T	XP_006720790.1:n.1340+230G>T
XM_011522131.1:c.1115+230G>T	XP_011520433.1:n.1115+230G>T
XM_011522132.1:c.107+3980G>T	XP_011520434.1:n.107+3980G>T
XM_011522133.1:c.322+24653G>T	XP_011520435.1:n.322+24653G>T
XM_011522135.1:c.1598+230G>T	XP_011520437.1:n.1598+230G>T
XM_011522136.1:c.1598+230G>T	XP_011520438.1:n.1598+230G>T
XM_011522137.1:c.1598+230G>T	XP_011520439.1:n.1598+230G>T
XR_931930.1:n.1727+230G>T
XR_931931.1:n.1727+230G>T
XM_005268276.5:c.1484+230G>T	XP_005268333.1:n.1484+230G>T
XM_006720726.3:c.1598+230G>T	XP_006720789.1:n.1598+230G>T
XM_006720727.3:c.1340+230G>T	XP_006720790.1:n.1340+230G>T
XM_017022695.1:c.1484+230G>T	XP_016878184.1:n.1484+230G>T
XM_017022696.1:c.1484+230G>T	XP_016878185.1:n.1484+230G>T
XR_001751410.1:n.1728+230G>T
XR_931930.2:n.1728+230G>T
NM_004667.6:c.1598+230G>T MANE Select	NP_004658.3:n.1598+230G>T