Canonical Allele Identifier: CA16621447
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418255
ClinVar RCV Id: RCV000485376
dbSNP Id: rs1064793152

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53320828del , CM000685.2:g.53320828del GRCh38
NC_000023.10:g.53350026del , CM000685.1:g.53350026del GRCh37
NC_000023.9:g.53366751del NCBI36
NG_021296.1:g.5497del
NG_021296.2:g.5523del

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.455del ENSP00000516672.1:p.His152ProfsTer?
ENST00000640694.1:c.296del ENSP00000492403.1:p.His99ProfsTer?
ENST00000642864.1:c.296del MANE Select ENSP00000495726.1:p.His99ProfsTer?
ENST00000674510.1:c.296del ENSP00000502054.1:p.His99ProfsTer?
ENST00000675719.1:c.296del ENSP00000501927.1:p.His99ProfsTer?
ENST00000396435.7:c.296del ENSP00000379712.3:p.His99ProfsTer?
NM_001111125.2:c.296del NP_001104595.1:p.His99ProfsTer?
XM_006724579.2:c.296del XP_006724642.1:p.His99ProfsTer?
XM_006724581.2:c.296del XP_006724644.1:p.His99ProfsTer?
XM_006724582.2:c.296del XP_006724645.1:p.His99ProfsTer?
XM_006724583.2:c.296del XP_006724646.1:p.His99ProfsTer?
XM_006724584.2:c.296del XP_006724647.1:p.His99ProfsTer?
XM_011530774.1:c.296del XP_011529076.1:p.His99ProfsTer?
XM_011530775.1:c.296del XP_011529077.1:p.His99ProfsTer?
XM_011530776.1:c.296del XP_011529078.1:p.His99ProfsTer?
XM_011530777.1:c.296del XP_011529079.1:p.His99ProfsTer?
XR_938365.1:n.523del
XM_006724579.3:c.296del XP_006724642.1:p.His99ProfsTer?
XM_006724581.4:c.296del XP_006724644.1:p.His99ProfsTer?
XM_006724582.4:c.296del XP_006724645.1:p.His99ProfsTer?
XM_006724583.4:c.296del XP_006724646.1:p.His99ProfsTer?
XM_006724584.3:c.296del XP_006724647.1:p.His99ProfsTer?
XM_011530774.3:c.296del XP_011529076.1:p.His99ProfsTer?
XM_011530776.2:c.296del XP_011529078.1:p.His99ProfsTer?
XM_011530777.2:c.296del XP_011529079.1:p.His99ProfsTer?
XM_017029359.2:c.296del XP_016884848.1:p.His99ProfsTer?
XR_938365.2:n.517del
NM_001111125.3:c.296del MANE Select NP_001104595.1:p.His99ProfsTer?