Canonical Allele Identifier: CA413148560
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241786C>T , CM000685.2:g.53241786C>T GRCh38
NC_000023.10:g.53270968C>T , CM000685.1:g.53270968C>T GRCh37
NC_000023.9:g.53287693C>T NCBI36
NG_021296.1:g.84555G>A
NG_021296.2:g.84565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3172G>A ENSP00000516672.1:p.Val1058Met
ENST00000638521.1:c.965G>A
ENST00000638869.1:c.474G>A
ENST00000639642.1:c.303G>A
ENST00000640005.1:c.76G>A ENSP00000491293.1:p.Val26Met
ENST00000640694.1:c.3013G>A ENSP00000492403.1:p.Val1005Met
ENST00000642864.1:c.3013G>A MANE Select ENSP00000495726.1:p.Val1005Met
ENST00000674510.1:c.3013G>A ENSP00000502054.1:p.Val1005Met
ENST00000674761.1:n.1320G>A
ENST00000675719.1:c.2983G>A ENSP00000501927.1:p.Val995Met
ENST00000375365.2:c.2398G>A ENSP00000364514.2:p.Val800Met
ENST00000396435.7:c.3013G>A ENSP00000379712.3:p.Val1005Met
NM_001111125.2:c.3013G>A NP_001104595.1:p.Val1005Met
NM_015075.1:c.2398G>A NP_055890.1:p.Val800Met
XM_006724579.2:c.3109G>A XP_006724642.1:p.Val1037Met
XM_006724580.2:c.2398G>A XP_006724643.1:p.Val800Met
XM_006724581.2:c.3109G>A XP_006724644.1:p.Val1037Met
XM_006724582.2:c.3109G>A XP_006724645.1:p.Val1037Met
XM_006724583.2:c.3109G>A XP_006724646.1:p.Val1037Met
XM_006724584.2:c.3109G>A XP_006724647.1:p.Val1037Met
XM_011530772.1:c.2335G>A XP_011529074.1:p.Val779Met
XM_011530773.1:c.2302G>A XP_011529075.1:p.Val768Met
XM_011530774.1:c.3109G>A XP_011529076.1:p.Val1037Met
XM_011530775.1:c.3109G>A XP_011529077.1:p.Val1037Met
XM_011530776.1:c.3109G>A XP_011529078.1:p.Val1037Met
XM_011530777.1:c.3109G>A XP_011529079.1:p.Val1037Met
XR_938365.1:n.3336G>A
XM_006724579.3:c.3109G>A XP_006724642.1:p.Val1037Met
XM_006724580.3:c.2398G>A XP_006724643.1:p.Val800Met
XM_006724581.4:c.3109G>A XP_006724644.1:p.Val1037Met
XM_006724582.4:c.3109G>A XP_006724645.1:p.Val1037Met
XM_006724583.4:c.3109G>A XP_006724646.1:p.Val1037Met
XM_006724584.3:c.3109G>A XP_006724647.1:p.Val1037Met
XM_011530773.2:c.2302G>A XP_011529075.1:p.Val768Met
XM_011530774.3:c.3109G>A XP_011529076.1:p.Val1037Met
XM_011530776.2:c.3109G>A XP_011529078.1:p.Val1037Met
XM_011530777.2:c.3109G>A XP_011529079.1:p.Val1037Met
XM_017029359.2:c.2983G>A XP_016884848.1:p.Val995Met
XM_017029360.1:c.2515G>A XP_016884849.1:p.Val839Met
XR_938365.2:n.3330G>A
NM_001111125.3:c.3013G>A MANE Select NP_001104595.1:p.Val1005Met
NM_015075.2:c.2398G>A NP_055890.1:p.Val800Met