Canonical Allele Identifier: CA413148802
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241806A>C , CM000685.2:g.53241806A>C GRCh38
NC_000023.10:g.53270988A>C , CM000685.1:g.53270988A>C GRCh37
NC_000023.9:g.53287713A>C NCBI36
NG_021296.1:g.84535T>G
NG_021296.2:g.84545T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3152T>G ENSP00000516672.1:p.Phe1051Cys
ENST00000638521.1:c.945T>G
ENST00000638869.1:c.454T>G
ENST00000639642.1:c.283T>G
ENST00000640005.1:c.56T>G ENSP00000491293.1:p.Phe19Cys
ENST00000640694.1:c.2993T>G ENSP00000492403.1:p.Phe998Cys
ENST00000642864.1:c.2993T>G MANE Select ENSP00000495726.1:p.Phe998Cys
ENST00000674510.1:c.2993T>G ENSP00000502054.1:p.Phe998Cys
ENST00000674761.1:n.1300T>G
ENST00000675719.1:c.2963T>G ENSP00000501927.1:p.Phe988Cys
ENST00000375365.2:c.2378T>G ENSP00000364514.2:p.Phe793Cys
ENST00000396435.7:c.2993T>G ENSP00000379712.3:p.Phe998Cys
NM_001111125.2:c.2993T>G NP_001104595.1:p.Phe998Cys
NM_015075.1:c.2378T>G NP_055890.1:p.Phe793Cys
XM_006724579.2:c.3089T>G XP_006724642.1:p.Phe1030Cys
XM_006724580.2:c.2378T>G XP_006724643.1:p.Phe793Cys
XM_006724581.2:c.3089T>G XP_006724644.1:p.Phe1030Cys
XM_006724582.2:c.3089T>G XP_006724645.1:p.Phe1030Cys
XM_006724583.2:c.3089T>G XP_006724646.1:p.Phe1030Cys
XM_006724584.2:c.3089T>G XP_006724647.1:p.Phe1030Cys
XM_011530772.1:c.2315T>G XP_011529074.1:p.Phe772Cys
XM_011530773.1:c.2282T>G XP_011529075.1:p.Phe761Cys
XM_011530774.1:c.3089T>G XP_011529076.1:p.Phe1030Cys
XM_011530775.1:c.3089T>G XP_011529077.1:p.Phe1030Cys
XM_011530776.1:c.3089T>G XP_011529078.1:p.Phe1030Cys
XM_011530777.1:c.3089T>G XP_011529079.1:p.Phe1030Cys
XR_938365.1:n.3316T>G
XM_006724579.3:c.3089T>G XP_006724642.1:p.Phe1030Cys
XM_006724580.3:c.2378T>G XP_006724643.1:p.Phe793Cys
XM_006724581.4:c.3089T>G XP_006724644.1:p.Phe1030Cys
XM_006724582.4:c.3089T>G XP_006724645.1:p.Phe1030Cys
XM_006724583.4:c.3089T>G XP_006724646.1:p.Phe1030Cys
XM_006724584.3:c.3089T>G XP_006724647.1:p.Phe1030Cys
XM_011530773.2:c.2282T>G XP_011529075.1:p.Phe761Cys
XM_011530774.3:c.3089T>G XP_011529076.1:p.Phe1030Cys
XM_011530776.2:c.3089T>G XP_011529078.1:p.Phe1030Cys
XM_011530777.2:c.3089T>G XP_011529079.1:p.Phe1030Cys
XM_017029359.2:c.2963T>G XP_016884848.1:p.Phe988Cys
XM_017029360.1:c.2495T>G XP_016884849.1:p.Phe832Cys
XR_938365.2:n.3310T>G
NM_001111125.3:c.2993T>G MANE Select NP_001104595.1:p.Phe998Cys
NM_015075.2:c.2378T>G NP_055890.1:p.Phe793Cys