Canonical Allele Identifier: CA413149348
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241851T>G , CM000685.2:g.53241851T>G GRCh38
NC_000023.10:g.53271033T>G , CM000685.1:g.53271033T>G GRCh37
NC_000023.9:g.53287758T>G NCBI36
NG_021296.1:g.84490A>C
NG_021296.2:g.84500A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3107A>C ENSP00000516672.1:p.Asp1036Ala
ENST00000638521.1:c.900A>C
ENST00000638869.1:c.409A>C
ENST00000639642.1:c.238A>C
ENST00000640005.1:c.11A>C ENSP00000491293.1:p.Asp4Ala
ENST00000640694.1:c.2948A>C ENSP00000492403.1:p.Asp983Ala
ENST00000642864.1:c.2948A>C MANE Select ENSP00000495726.1:p.Asp983Ala
ENST00000674510.1:c.2948A>C ENSP00000502054.1:p.Asp983Ala
ENST00000674761.1:n.1255A>C
ENST00000675719.1:c.2918A>C ENSP00000501927.1:p.Asp973Ala
ENST00000375365.2:c.2333A>C ENSP00000364514.2:p.Asp778Ala
ENST00000396435.7:c.2948A>C ENSP00000379712.3:p.Asp983Ala
NM_001111125.2:c.2948A>C NP_001104595.1:p.Asp983Ala
NM_015075.1:c.2333A>C NP_055890.1:p.Asp778Ala
XM_006724579.2:c.3044A>C XP_006724642.1:p.Asp1015Ala
XM_006724580.2:c.2333A>C XP_006724643.1:p.Asp778Ala
XM_006724581.2:c.3044A>C XP_006724644.1:p.Asp1015Ala
XM_006724582.2:c.3044A>C XP_006724645.1:p.Asp1015Ala
XM_006724583.2:c.3044A>C XP_006724646.1:p.Asp1015Ala
XM_006724584.2:c.3044A>C XP_006724647.1:p.Asp1015Ala
XM_011530772.1:c.2270A>C XP_011529074.1:p.Asp757Ala
XM_011530773.1:c.2237A>C XP_011529075.1:p.Asp746Ala
XM_011530774.1:c.3044A>C XP_011529076.1:p.Asp1015Ala
XM_011530775.1:c.3044A>C XP_011529077.1:p.Asp1015Ala
XM_011530776.1:c.3044A>C XP_011529078.1:p.Asp1015Ala
XM_011530777.1:c.3044A>C XP_011529079.1:p.Asp1015Ala
XR_938365.1:n.3271A>C
XM_006724579.3:c.3044A>C XP_006724642.1:p.Asp1015Ala
XM_006724580.3:c.2333A>C XP_006724643.1:p.Asp778Ala
XM_006724581.4:c.3044A>C XP_006724644.1:p.Asp1015Ala
XM_006724582.4:c.3044A>C XP_006724645.1:p.Asp1015Ala
XM_006724583.4:c.3044A>C XP_006724646.1:p.Asp1015Ala
XM_006724584.3:c.3044A>C XP_006724647.1:p.Asp1015Ala
XM_011530773.2:c.2237A>C XP_011529075.1:p.Asp746Ala
XM_011530774.3:c.3044A>C XP_011529076.1:p.Asp1015Ala
XM_011530776.2:c.3044A>C XP_011529078.1:p.Asp1015Ala
XM_011530777.2:c.3044A>C XP_011529079.1:p.Asp1015Ala
XM_017029359.2:c.2918A>C XP_016884848.1:p.Asp973Ala
XM_017029360.1:c.2450A>C XP_016884849.1:p.Asp817Ala
XR_938365.2:n.3265A>C
NM_001111125.3:c.2948A>C MANE Select NP_001104595.1:p.Asp983Ala
NM_015075.2:c.2333A>C NP_055890.1:p.Asp778Ala