Canonical Allele Identifier: CA2522511244

Gene: IQSEC2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53248141_53248142insAATGGCGATTGTAAAGTAATGTTTGGATTGTTCGTCATAAGAAAACCCTTGCATGAATGCTGTTTTCCCGACACCGGGGTCCCCCAATAGAATTACGTTTGCCTTCTCAGGTGTTCTCAATTGGAG , CM000685.2:g.53248141_53248142insAATGGCGATTGTAAAGTAATGTTTGGATTGTTCGTCATAAGAAAACCCTTGCATGAATGCTGTTTTCCCGACACCGGGGTCCCCCAATAGAATTACGTTTGCCTTCTCAGGTGTTCTCAATTGGAG	GRCh38
NC_000023.10:g.53277323_53277324insAATGGCGATTGTAAAGTAATGTTTGGATTGTTCGTCATAAGAAAACCCTTGCATGAATGCTGTTTTCCCGACACCGGGGTCCCCCAATAGAATTACGTTTGCCTTCTCAGGTGTTCTCAATTGGAG , CM000685.1:g.53277323_53277324insAATGGCGATTGTAAAGTAATGTTTGGATTGTTCGTCATAAGAAAACCCTTGCATGAATGCTGTTTTCCCGACACCGGGGTCCCCCAATAGAATTACGTTTGCCTTCTCAGGTGTTCTCAATTGGAG	GRCh37
NC_000023.9:g.53294048_53294049insAATGGCGATTGTAAAGTAATGTTTGGATTGTTCGTCATAAGAAAACCCTTGCATGAATGCTGTTTTCCCGACACCGGGGTCCCCCAATAGAATTACGTTTGCCTTCTCAGGTGTTCTCAATTGGAG	NCBI36
NG_021296.1:g.78199_78200insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
NG_021296.2:g.78209_78210insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2713_2714insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	ENSP00000516672.1:p.Lys905ThrfsTer7
ENST00000638521.1:c.506_507insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
ENST00000638869.1:c.15_16insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
ENST00000640694.1:c.2554_2555insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	ENSP00000492403.1:p.Lys852ThrfsTer7
ENST00000642864.1:c.2554_2555insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT MANE Select	ENSP00000495726.1:p.Lys852ThrfsTer7
ENST00000674510.1:c.2554_2555insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	ENSP00000502054.1:p.Lys852ThrfsTer7
ENST00000674761.1:n.305_306insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
ENST00000675719.1:c.2524_2525insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	ENSP00000501927.1:p.Lys842ThrfsTer7
ENST00000375365.2:c.1939_1940insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	ENSP00000364514.2:p.Lys647ThrfsTer7
ENST00000396435.7:c.2554_2555insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	ENSP00000379712.3:p.Lys852ThrfsTer7
NM_001111125.2:c.2554_2555insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	NP_001104595.1:p.Lys852ThrfsTer7
NM_015075.1:c.1939_1940insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	NP_055890.1:p.Lys647ThrfsTer7
XM_006724579.2:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724642.1:p.Lys884ThrfsTer7
XM_006724580.2:c.1939_1940insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724643.1:p.Lys647ThrfsTer7
XM_006724581.2:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724644.1:p.Lys884ThrfsTer7
XM_006724582.2:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724645.1:p.Lys884ThrfsTer7
XM_006724583.2:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724646.1:p.Lys884ThrfsTer7
XM_006724584.2:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724647.1:p.Lys884ThrfsTer7
XM_011530772.1:c.1876_1877insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_011529074.1:p.Lys626ThrfsTer7
XM_011530773.1:c.1843_1844insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_011529075.1:p.Lys615ThrfsTer7
XM_011530774.1:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_011529076.1:p.Lys884ThrfsTer7
XM_011530775.1:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_011529077.1:p.Lys884ThrfsTer7
XM_011530776.1:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_011529078.1:p.Lys884ThrfsTer7
XM_011530777.1:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_011529079.1:p.Lys884ThrfsTer7
XR_938365.1:n.2877_2878insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
XM_006724579.3:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724642.1:p.Lys884ThrfsTer7
XM_006724580.3:c.1939_1940insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724643.1:p.Lys647ThrfsTer7
XM_006724581.4:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724644.1:p.Lys884ThrfsTer7
XM_006724582.4:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724645.1:p.Lys884ThrfsTer7
XM_006724583.4:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724646.1:p.Lys884ThrfsTer7
XM_006724584.3:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_006724647.1:p.Lys884ThrfsTer7
XM_011530773.2:c.1843_1844insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_011529075.1:p.Lys615ThrfsTer7
XM_011530774.3:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_011529076.1:p.Lys884ThrfsTer7
XM_011530776.2:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_011529078.1:p.Lys884ThrfsTer7
XM_011530777.2:c.2650_2651insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_011529079.1:p.Lys884ThrfsTer7
XM_017029359.2:c.2524_2525insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_016884848.1:p.Lys842ThrfsTer7
XM_017029360.1:c.2056_2057insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	XP_016884849.1:p.Lys686ThrfsTer7
XR_938365.2:n.2871_2872insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT
NM_001111125.3:c.2554_2555insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT MANE Select	NP_001104595.1:p.Lys852ThrfsTer7
NM_015075.2:c.1939_1940insCTCCAATTGAGAACACCTGAGAAGGCAAACGTAATTCTATTGGGGGACCCCGGTGTCGGGAAAACAGCATTCATGCAAGGGTTTTCTTATGACGAACAATCCAAACATTACTTTACAATCGCCATT	NP_055890.1:p.Lys647ThrfsTer7