Canonical Allele Identifier: CA968036344

Gene: HERC2

Linked Data

• dbSNP Id: rs2141082860
• gnomAD v3: 15-28284947-AAAG-A
• gnomAD v4: 15-28284947-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284949_28284951del , CM000677.2:g.28284949_28284951del	GRCh38
NC_000015.9:g.28530095_28530097del , CM000677.1:g.28530095_28530097del	GRCh37
NC_000015.8:g.26203690_26203692del	NCBI36
NG_016355.1:g.42200_42202del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.323-4663_323-4661del MANE Select	ENSP00000261609.8:n.323-4663_323-4661del
ENST00000261609.11:c.323-4663_323-4661del	ENSP00000261609.7:n.323-4663_323-4661del
ENST00000564383.1:n.218-4663_218-4661del
ENST00000564734.5:c.*193-4663_*193-4661del	ENSP00000456237.1:n.*193-4663_*193-4661de...
NM_004667.5:c.323-4663_323-4661del	NP_004658.3:n.323-4663_323-4661del
XM_005268276.3:c.209-4663_209-4661del	XP_005268333.1:n.209-4663_209-4661del
XM_005268277.3:c.209-4663_209-4661del	XP_005268334.1:n.209-4663_209-4661del
XM_006720726.2:c.323-4663_323-4661del	XP_006720789.1:n.323-4663_323-4661del
XM_006720727.2:c.323-4663_323-4661del	XP_006720790.1:n.323-4663_323-4661del
XM_011522133.1:c.322+7938_322+7940del	XP_011520435.1:n.322+7938_322+7940del
XM_011522135.1:c.323-4663_323-4661del	XP_011520437.1:n.323-4663_323-4661del
XM_011522136.1:c.323-4663_323-4661del	XP_011520438.1:n.323-4663_323-4661del
XM_011522137.1:c.323-4663_323-4661del	XP_011520439.1:n.323-4663_323-4661del
XR_931930.1:n.452-4663_452-4661del
XR_931931.1:n.452-4663_452-4661del
XM_005268276.5:c.209-4663_209-4661del	XP_005268333.1:n.209-4663_209-4661del
XM_006720726.3:c.323-4663_323-4661del	XP_006720789.1:n.323-4663_323-4661del
XM_006720727.3:c.323-4663_323-4661del	XP_006720790.1:n.323-4663_323-4661del
XM_017022695.1:c.209-4663_209-4661del	XP_016878184.1:n.209-4663_209-4661del
XM_017022696.1:c.209-4663_209-4661del	XP_016878185.1:n.209-4663_209-4661del
XR_001751410.1:n.453-4663_453-4661del
XR_931930.2:n.453-4663_453-4661del
NM_004667.6:c.323-4663_323-4661del MANE Select	NP_004658.3:n.323-4663_323-4661del