Canonical Allele Identifier: CA2523324195
Gene: IQSEC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53256047del , CM000685.2:g.53256047del GRCh38
NC_000023.10:g.53285229del , CM000685.1:g.53285229del GRCh37
NC_000023.9:g.53301954del NCBI36
NG_021296.1:g.70297del
NG_021296.2:g.70307del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.914del ENSP00000516672.1:p.Pro305GlnfsTer5
ENST00000638630.1:c.44del ENSP00000492390.1:p.Pro15GlnfsTer5
ENST00000640694.1:c.755del ENSP00000492403.1:p.Pro252GlnfsTer5
ENST00000642864.1:c.755del MANE Select ENSP00000495726.1:p.Pro252GlnfsTer5
ENST00000674510.1:c.755del ENSP00000502054.1:p.Pro252GlnfsTer5
ENST00000675719.1:c.725del ENSP00000501927.1:p.Pro242GlnfsTer5
ENST00000375365.2:c.140del ENSP00000364514.2:p.Pro47GlnfsTer5
ENST00000396435.7:c.755del ENSP00000379712.3:p.Pro252GlnfsTer5
NM_001111125.2:c.755del NP_001104595.1:p.Pro252GlnfsTer5
NM_015075.1:c.140del NP_055890.1:p.Pro47GlnfsTer5
XM_006724579.2:c.851del XP_006724642.1:p.Pro284GlnfsTer5
XM_006724580.2:c.140del XP_006724643.1:p.Pro47GlnfsTer5
XM_006724581.2:c.851del XP_006724644.1:p.Pro284GlnfsTer5
XM_006724582.2:c.851del XP_006724645.1:p.Pro284GlnfsTer5
XM_006724583.2:c.851del XP_006724646.1:p.Pro284GlnfsTer5
XM_006724584.2:c.851del XP_006724647.1:p.Pro284GlnfsTer5
XM_011530772.1:c.77del XP_011529074.1:p.Pro26GlnfsTer5
XM_011530773.1:c.44del XP_011529075.1:p.Pro15GlnfsTer5
XM_011530774.1:c.851del XP_011529076.1:p.Pro284GlnfsTer5
XM_011530775.1:c.851del XP_011529077.1:p.Pro284GlnfsTer5
XM_011530776.1:c.851del XP_011529078.1:p.Pro284GlnfsTer5
XM_011530777.1:c.851del XP_011529079.1:p.Pro284GlnfsTer5
XR_938365.1:n.1078del
XM_006724579.3:c.851del XP_006724642.1:p.Pro284GlnfsTer5
XM_006724580.3:c.140del XP_006724643.1:p.Pro47GlnfsTer5
XM_006724581.4:c.851del XP_006724644.1:p.Pro284GlnfsTer5
XM_006724582.4:c.851del XP_006724645.1:p.Pro284GlnfsTer5
XM_006724583.4:c.851del XP_006724646.1:p.Pro284GlnfsTer5
XM_006724584.3:c.851del XP_006724647.1:p.Pro284GlnfsTer5
XM_011530773.2:c.44del XP_011529075.1:p.Pro15GlnfsTer5
XM_011530774.3:c.851del XP_011529076.1:p.Pro284GlnfsTer5
XM_011530776.2:c.851del XP_011529078.1:p.Pro284GlnfsTer5
XM_011530777.2:c.851del XP_011529079.1:p.Pro284GlnfsTer5
XM_017029359.2:c.725del XP_016884848.1:p.Pro242GlnfsTer5
XM_017029360.1:c.257del XP_016884849.1:p.Pro86GlnfsTer5
XR_938365.2:n.1072del
NM_001111125.3:c.755del MANE Select NP_001104595.1:p.Pro252GlnfsTer5
NM_015075.2:c.140del NP_055890.1:p.Pro47GlnfsTer5