Canonical Allele Identifier: CA2843565908
Gene: IQSEC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53234729dup , CM000685.2:g.53234729dup GRCh38
NC_000023.10:g.53263911dup , CM000685.1:g.53263911dup GRCh37
NC_000023.9:g.53280636dup NCBI36
NG_021296.1:g.91612dup
NG_021296.2:g.91622dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.4116dup ENSP00000516672.1:p.Arg1373SerfsTer?
ENST00000638521.1:c.1453+1054dup
ENST00000638869.1:c.962+1054dup
ENST00000639796.1:c.316+1593dup ENSP00000492252.1:n.316+1593dup
ENST00000640005.1:c.514+1593dup ENSP00000491293.1:n.514+1593dup
ENST00000640694.1:c.*442dup ENSP00000492403.1:n.*442dup
ENST00000642864.1:c.3957dup MANE Select ENSP00000495726.1:p.Arg1320SerfsTer?
ENST00000674510.1:c.3957dup ENSP00000502054.1:p.Arg1320SerfsTer?
ENST00000675719.1:c.3927dup ENSP00000501927.1:p.Arg1310SerfsTer?
ENST00000375365.2:c.*442dup ENSP00000364514.2:n.*442dup
ENST00000396435.7:c.3957dup ENSP00000379712.3:p.Arg1320SerfsTer?
NM_001111125.2:c.3957dup NP_001104595.1:p.Arg1320SerfsTer?
NM_015075.1:c.*442dup NP_055890.1:n.*442dup
XM_006724579.2:c.4053dup XP_006724642.1:p.Arg1352SerfsTer?
XM_006724580.2:c.3342dup XP_006724643.1:p.Arg1115SerfsTer?
XM_006724581.2:c.3597+1054dup XP_006724644.1:n.3597+1054dup
XM_006724582.2:c.3597+1054dup XP_006724645.1:n.3597+1054dup
XM_006724583.2:c.3547+1593dup XP_006724646.1:n.3547+1593dup
XM_006724584.2:c.*442dup XP_006724647.1:n.*442dup
XM_011530772.1:c.3279dup XP_011529074.1:p.Arg1094SerfsTer?
XM_011530773.1:c.3246dup XP_011529075.1:p.Arg1083SerfsTer?
XM_011530775.1:c.3547+1593dup XP_011529077.1:n.3547+1593dup
XM_006724579.3:c.4053dup XP_006724642.1:p.Arg1352SerfsTer?
XM_006724580.3:c.3342dup XP_006724643.1:p.Arg1115SerfsTer?
XM_006724581.4:c.3597+1054dup XP_006724644.1:n.3597+1054dup
XM_006724582.4:c.3597+1054dup XP_006724645.1:n.3597+1054dup
XM_006724583.4:c.3547+1593dup XP_006724646.1:n.3547+1593dup
XM_006724584.3:c.*442dup XP_006724647.1:n.*442dup
XM_011530773.2:c.3246dup XP_011529075.1:p.Arg1083SerfsTer?
XM_017029359.2:c.3927dup XP_016884848.1:p.Arg1310SerfsTer?
XM_017029360.1:c.3459dup XP_016884849.1:p.Arg1154SerfsTer?
NM_001111125.3:c.3957dup MANE Select NP_001104595.1:p.Arg1320SerfsTer?
NM_015075.2:c.*442dup NP_055890.1:n.*442dup