Canonical Allele Identifier: CA968043188

Gene: HERC2

Linked Data

• dbSNP Id: rs2075622668
• gnomAD v3: 15-28268237-G-C
• gnomAD v4: 15-28268237-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28268237G>C , CM000677.2:g.28268237G>C	GRCh38
NC_000015.9:g.28513383G>C , CM000677.1:g.28513383G>C	GRCh37
NC_000015.8:g.26186978G>C	NCBI36
NG_016355.1:g.58913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.1598+228C>G MANE Select	ENSP00000261609.8:n.1598+228C>G
ENST00000261609.11:c.1598+228C>G	ENSP00000261609.7:n.1598+228C>G
ENST00000564734.5:c.*1468+228C>G	ENSP00000456237.1:n.*1468+228C>G
NM_004667.5:c.1598+228C>G	NP_004658.3:n.1598+228C>G
XM_005268276.3:c.1484+228C>G	XP_005268333.1:n.1484+228C>G
XM_005268277.3:c.1484+228C>G	XP_005268334.1:n.1484+228C>G
XM_006720726.2:c.1598+228C>G	XP_006720789.1:n.1598+228C>G
XM_006720727.2:c.1340+228C>G	XP_006720790.1:n.1340+228C>G
XM_011522131.1:c.1115+228C>G	XP_011520433.1:n.1115+228C>G
XM_011522132.1:c.107+3978C>G	XP_011520434.1:n.107+3978C>G
XM_011522133.1:c.322+24651C>G	XP_011520435.1:n.322+24651C>G
XM_011522135.1:c.1598+228C>G	XP_011520437.1:n.1598+228C>G
XM_011522136.1:c.1598+228C>G	XP_011520438.1:n.1598+228C>G
XM_011522137.1:c.1598+228C>G	XP_011520439.1:n.1598+228C>G
XR_931930.1:n.1727+228C>G
XR_931931.1:n.1727+228C>G
XM_005268276.5:c.1484+228C>G	XP_005268333.1:n.1484+228C>G
XM_006720726.3:c.1598+228C>G	XP_006720789.1:n.1598+228C>G
XM_006720727.3:c.1340+228C>G	XP_006720790.1:n.1340+228C>G
XM_017022695.1:c.1484+228C>G	XP_016878184.1:n.1484+228C>G
XM_017022696.1:c.1484+228C>G	XP_016878185.1:n.1484+228C>G
XR_001751410.1:n.1728+228C>G
XR_931930.2:n.1728+228C>G
NM_004667.6:c.1598+228C>G MANE Select	NP_004658.3:n.1598+228C>G