Canonical Allele Identifier: CA413140756
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53234883T>G , CM000685.2:g.53234883T>G GRCh38
NC_000023.10:g.53264065T>G , CM000685.1:g.53264065T>G GRCh37
NC_000023.9:g.53280790T>G NCBI36
NG_021296.1:g.91458A>C
NG_021296.2:g.91468A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3962A>C ENSP00000516672.1:p.His1321Pro
ENST00000638521.1:c.1453+900A>C
ENST00000638869.1:c.962+900A>C
ENST00000639796.1:c.316+1439A>C ENSP00000492252.1:n.316+1439A>C
ENST00000640005.1:c.514+1439A>C ENSP00000491293.1:n.514+1439A>C
ENST00000640694.1:c.*288A>C ENSP00000492403.1:n.*288A>C
ENST00000642864.1:c.3803A>C MANE Select ENSP00000495726.1:p.His1268Pro
ENST00000674510.1:c.3803A>C ENSP00000502054.1:p.His1268Pro
ENST00000675719.1:c.3773A>C ENSP00000501927.1:p.His1258Pro
ENST00000375365.2:c.*288A>C ENSP00000364514.2:n.*288A>C
ENST00000396435.7:c.3803A>C ENSP00000379712.3:p.His1268Pro
NM_001111125.2:c.3803A>C NP_001104595.1:p.His1268Pro
NM_015075.1:c.*288A>C NP_055890.1:n.*288A>C
XM_006724579.2:c.3899A>C XP_006724642.1:p.His1300Pro
XM_006724580.2:c.3188A>C XP_006724643.1:p.His1063Pro
XM_006724581.2:c.3597+900A>C XP_006724644.1:n.3597+900A>C
XM_006724582.2:c.3597+900A>C XP_006724645.1:n.3597+900A>C
XM_006724583.2:c.3547+1439A>C XP_006724646.1:n.3547+1439A>C
XM_006724584.2:c.*288A>C XP_006724647.1:n.*288A>C
XM_011530772.1:c.3125A>C XP_011529074.1:p.His1042Pro
XM_011530773.1:c.3092A>C XP_011529075.1:p.His1031Pro
XM_011530775.1:c.3547+1439A>C XP_011529077.1:n.3547+1439A>C
XM_006724579.3:c.3899A>C XP_006724642.1:p.His1300Pro
XM_006724580.3:c.3188A>C XP_006724643.1:p.His1063Pro
XM_006724581.4:c.3597+900A>C XP_006724644.1:n.3597+900A>C
XM_006724582.4:c.3597+900A>C XP_006724645.1:n.3597+900A>C
XM_006724583.4:c.3547+1439A>C XP_006724646.1:n.3547+1439A>C
XM_006724584.3:c.*288A>C XP_006724647.1:n.*288A>C
XM_011530773.2:c.3092A>C XP_011529075.1:p.His1031Pro
XM_017029359.2:c.3773A>C XP_016884848.1:p.His1258Pro
XM_017029360.1:c.3305A>C XP_016884849.1:p.His1102Pro
NM_001111125.3:c.3803A>C MANE Select NP_001104595.1:p.His1268Pro
NM_015075.2:c.*288A>C NP_055890.1:n.*288A>C