Canonical Allele Identifier: CA2839054031
Gene: IQSEC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53250671dup , CM000685.2:g.53250671dup GRCh38
NC_000023.10:g.53279853dup , CM000685.1:g.53279853dup GRCh37
NC_000023.9:g.53296578dup NCBI36
NG_021296.1:g.75673dup
NG_021296.2:g.75683dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.2067dup ENSP00000516672.1:p.Pro690AlafsTer16
ENST00000640694.1:c.1908dup ENSP00000492403.1:p.Pro637AlafsTer16
ENST00000642864.1:c.1908dup MANE Select ENSP00000495726.1:p.Pro637AlafsTer16
ENST00000674510.1:c.1908dup ENSP00000502054.1:p.Pro637AlafsTer16
ENST00000675719.1:c.1878dup ENSP00000501927.1:p.Pro627AlafsTer16
ENST00000375365.2:c.1293dup ENSP00000364514.2:p.Pro432AlafsTer16
ENST00000396435.7:c.1908dup ENSP00000379712.3:p.Pro637AlafsTer16
NM_001111125.2:c.1908dup NP_001104595.1:p.Pro637AlafsTer16
NM_015075.1:c.1293dup NP_055890.1:p.Pro432AlafsTer16
XM_006724579.2:c.2004dup XP_006724642.1:p.Pro669AlafsTer16
XM_006724580.2:c.1293dup XP_006724643.1:p.Pro432AlafsTer16
XM_006724581.2:c.2004dup XP_006724644.1:p.Pro669AlafsTer16
XM_006724582.2:c.2004dup XP_006724645.1:p.Pro669AlafsTer16
XM_006724583.2:c.2004dup XP_006724646.1:p.Pro669AlafsTer16
XM_006724584.2:c.2004dup XP_006724647.1:p.Pro669AlafsTer16
XM_011530772.1:c.1230dup XP_011529074.1:p.Pro411AlafsTer16
XM_011530773.1:c.1197dup XP_011529075.1:p.Pro400AlafsTer16
XM_011530774.1:c.2004dup XP_011529076.1:p.Pro669AlafsTer16
XM_011530775.1:c.2004dup XP_011529077.1:p.Pro669AlafsTer16
XM_011530776.1:c.2004dup XP_011529078.1:p.Pro669AlafsTer16
XM_011530777.1:c.2004dup XP_011529079.1:p.Pro669AlafsTer16
XR_938365.1:n.2231dup
XM_006724579.3:c.2004dup XP_006724642.1:p.Pro669AlafsTer16
XM_006724580.3:c.1293dup XP_006724643.1:p.Pro432AlafsTer16
XM_006724581.4:c.2004dup XP_006724644.1:p.Pro669AlafsTer16
XM_006724582.4:c.2004dup XP_006724645.1:p.Pro669AlafsTer16
XM_006724583.4:c.2004dup XP_006724646.1:p.Pro669AlafsTer16
XM_006724584.3:c.2004dup XP_006724647.1:p.Pro669AlafsTer16
XM_011530773.2:c.1197dup XP_011529075.1:p.Pro400AlafsTer16
XM_011530774.3:c.2004dup XP_011529076.1:p.Pro669AlafsTer16
XM_011530776.2:c.2004dup XP_011529078.1:p.Pro669AlafsTer16
XM_011530777.2:c.2004dup XP_011529079.1:p.Pro669AlafsTer16
XM_017029359.2:c.1878dup XP_016884848.1:p.Pro627AlafsTer16
XM_017029360.1:c.1410dup XP_016884849.1:p.Pro471AlafsTer16
XR_938365.2:n.2225dup
NM_001111125.3:c.1908dup MANE Select NP_001104595.1:p.Pro637AlafsTer16
NM_015075.2:c.1293dup NP_055890.1:p.Pro432AlafsTer16