Canonical Allele Identifier: CA10603504
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 280241
dbSNP Id: rs886041481

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53256000del , CM000685.2:g.53256000del GRCh38
NC_000023.10:g.53285182del , CM000685.1:g.53285182del GRCh37
NC_000023.9:g.53301907del NCBI36
NG_021296.1:g.70346del
NG_021296.2:g.70356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.963del ENSP00000516672.1:p.Tyr322ThrfsTer3
ENST00000638630.1:c.93del ENSP00000492390.1:p.Tyr32ThrfsTer3
ENST00000640694.1:c.804del ENSP00000492403.1:p.Tyr269ThrfsTer3
ENST00000642864.1:c.804del MANE Select ENSP00000495726.1:p.Tyr269ThrfsTer3
ENST00000674510.1:c.804del ENSP00000502054.1:p.Tyr269ThrfsTer3
ENST00000675719.1:c.774del ENSP00000501927.1:p.Tyr259ThrfsTer3
ENST00000375365.2:c.189del ENSP00000364514.2:p.Tyr64ThrfsTer3
ENST00000396435.7:c.804del ENSP00000379712.3:p.Tyr269ThrfsTer3
NM_001111125.2:c.804del NP_001104595.1:p.Tyr269ThrfsTer3
NM_015075.1:c.189del NP_055890.1:p.Tyr64ThrfsTer3
XM_006724579.2:c.900del XP_006724642.1:p.Tyr301ThrfsTer3
XM_006724580.2:c.189del XP_006724643.1:p.Tyr64ThrfsTer3
XM_006724581.2:c.900del XP_006724644.1:p.Tyr301ThrfsTer3
XM_006724582.2:c.900del XP_006724645.1:p.Tyr301ThrfsTer3
XM_006724583.2:c.900del XP_006724646.1:p.Tyr301ThrfsTer3
XM_006724584.2:c.900del XP_006724647.1:p.Tyr301ThrfsTer3
XM_011530772.1:c.126del XP_011529074.1:p.Tyr43ThrfsTer3
XM_011530773.1:c.93del XP_011529075.1:p.Tyr32ThrfsTer3
XM_011530774.1:c.900del XP_011529076.1:p.Tyr301ThrfsTer3
XM_011530775.1:c.900del XP_011529077.1:p.Tyr301ThrfsTer3
XM_011530776.1:c.900del XP_011529078.1:p.Tyr301ThrfsTer3
XM_011530777.1:c.900del XP_011529079.1:p.Tyr301ThrfsTer3
XR_938365.1:n.1127del
XM_006724579.3:c.900del XP_006724642.1:p.Tyr301ThrfsTer3
XM_006724580.3:c.189del XP_006724643.1:p.Tyr64ThrfsTer3
XM_006724581.4:c.900del XP_006724644.1:p.Tyr301ThrfsTer3
XM_006724582.4:c.900del XP_006724645.1:p.Tyr301ThrfsTer3
XM_006724583.4:c.900del XP_006724646.1:p.Tyr301ThrfsTer3
XM_006724584.3:c.900del XP_006724647.1:p.Tyr301ThrfsTer3
XM_011530773.2:c.93del XP_011529075.1:p.Tyr32ThrfsTer3
XM_011530774.3:c.900del XP_011529076.1:p.Tyr301ThrfsTer3
XM_011530776.2:c.900del XP_011529078.1:p.Tyr301ThrfsTer3
XM_011530777.2:c.900del XP_011529079.1:p.Tyr301ThrfsTer3
XM_017029359.2:c.774del XP_016884848.1:p.Tyr259ThrfsTer3
XM_017029360.1:c.306del XP_016884849.1:p.Tyr103ThrfsTer3
XR_938365.2:n.1121del
NM_001111125.3:c.804del MANE Select NP_001104595.1:p.Tyr269ThrfsTer3
NM_015075.2:c.189del NP_055890.1:p.Tyr64ThrfsTer3