Canonical Allele Identifier: CA413149706
Gene: IQSEC2 HGNC NCBI

Linked Data

gnomAD v4: X-53241893-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241893T>C , CM000685.2:g.53241893T>C GRCh38
NC_000023.10:g.53271075T>C , CM000685.1:g.53271075T>C GRCh37
NC_000023.9:g.53287800T>C NCBI36
NG_021296.1:g.84448A>G
NG_021296.2:g.84458A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3065A>G ENSP00000516672.1:p.His1022Arg
ENST00000638521.1:c.858A>G
ENST00000638869.1:c.367A>G
ENST00000639642.1:c.196A>G
ENST00000640694.1:c.2906A>G ENSP00000492403.1:p.His969Arg
ENST00000642864.1:c.2906A>G MANE Select ENSP00000495726.1:p.His969Arg
ENST00000674510.1:c.2906A>G ENSP00000502054.1:p.His969Arg
ENST00000674761.1:n.1213A>G
ENST00000675719.1:c.2876A>G ENSP00000501927.1:p.His959Arg
ENST00000375365.2:c.2291A>G ENSP00000364514.2:p.His764Arg
ENST00000396435.7:c.2906A>G ENSP00000379712.3:p.His969Arg
NM_001111125.2:c.2906A>G NP_001104595.1:p.His969Arg
NM_015075.1:c.2291A>G NP_055890.1:p.His764Arg
XM_006724579.2:c.3002A>G XP_006724642.1:p.His1001Arg
XM_006724580.2:c.2291A>G XP_006724643.1:p.His764Arg
XM_006724581.2:c.3002A>G XP_006724644.1:p.His1001Arg
XM_006724582.2:c.3002A>G XP_006724645.1:p.His1001Arg
XM_006724583.2:c.3002A>G XP_006724646.1:p.His1001Arg
XM_006724584.2:c.3002A>G XP_006724647.1:p.His1001Arg
XM_011530772.1:c.2228A>G XP_011529074.1:p.His743Arg
XM_011530773.1:c.2195A>G XP_011529075.1:p.His732Arg
XM_011530774.1:c.3002A>G XP_011529076.1:p.His1001Arg
XM_011530775.1:c.3002A>G XP_011529077.1:p.His1001Arg
XM_011530776.1:c.3002A>G XP_011529078.1:p.His1001Arg
XM_011530777.1:c.3002A>G XP_011529079.1:p.His1001Arg
XR_938365.1:n.3229A>G
XM_006724579.3:c.3002A>G XP_006724642.1:p.His1001Arg
XM_006724580.3:c.2291A>G XP_006724643.1:p.His764Arg
XM_006724581.4:c.3002A>G XP_006724644.1:p.His1001Arg
XM_006724582.4:c.3002A>G XP_006724645.1:p.His1001Arg
XM_006724583.4:c.3002A>G XP_006724646.1:p.His1001Arg
XM_006724584.3:c.3002A>G XP_006724647.1:p.His1001Arg
XM_011530773.2:c.2195A>G XP_011529075.1:p.His732Arg
XM_011530774.3:c.3002A>G XP_011529076.1:p.His1001Arg
XM_011530776.2:c.3002A>G XP_011529078.1:p.His1001Arg
XM_011530777.2:c.3002A>G XP_011529079.1:p.His1001Arg
XM_017029359.2:c.2876A>G XP_016884848.1:p.His959Arg
XM_017029360.1:c.2408A>G XP_016884849.1:p.His803Arg
XR_938365.2:n.3223A>G
NM_001111125.3:c.2906A>G MANE Select NP_001104595.1:p.His969Arg
NM_015075.2:c.2291A>G NP_055890.1:p.His764Arg