Canonical Allele Identifier: CA501123
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 383534
dbSNP Id: rs1057521657

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241816G>A , CM000685.2:g.53241816G>A GRCh38
NC_000023.10:g.53270998G>A , CM000685.1:g.53270998G>A GRCh37
NC_000023.9:g.53287723G>A NCBI36
NG_021296.1:g.84525C>T
NG_021296.2:g.84535C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.3142C>T ENSP00000516672.1:p.Arg1048Trp
ENST00000638521.1:c.935C>T
ENST00000638869.1:c.444C>T
ENST00000639642.1:c.273C>T
ENST00000640005.1:c.46C>T ENSP00000491293.1:p.Arg16Trp
ENST00000640694.1:c.2983C>T ENSP00000492403.1:p.Arg995Trp
ENST00000642864.1:c.2983C>T MANE Select ENSP00000495726.1:p.Arg995Trp
ENST00000674510.1:c.2983C>T ENSP00000502054.1:p.Arg995Trp
ENST00000674761.1:n.1290C>T
ENST00000675719.1:c.2953C>T ENSP00000501927.1:p.Arg985Trp
ENST00000375365.2:c.2368C>T ENSP00000364514.2:p.Arg790Trp
ENST00000396435.7:c.2983C>T ENSP00000379712.3:p.Arg995Trp
NM_001111125.2:c.2983C>T NP_001104595.1:p.Arg995Trp
NM_015075.1:c.2368C>T NP_055890.1:p.Arg790Trp
XM_006724579.2:c.3079C>T XP_006724642.1:p.Arg1027Trp
XM_006724580.2:c.2368C>T XP_006724643.1:p.Arg790Trp
XM_006724581.2:c.3079C>T XP_006724644.1:p.Arg1027Trp
XM_006724582.2:c.3079C>T XP_006724645.1:p.Arg1027Trp
XM_006724583.2:c.3079C>T XP_006724646.1:p.Arg1027Trp
XM_006724584.2:c.3079C>T XP_006724647.1:p.Arg1027Trp
XM_011530772.1:c.2305C>T XP_011529074.1:p.Arg769Trp
XM_011530773.1:c.2272C>T XP_011529075.1:p.Arg758Trp
XM_011530774.1:c.3079C>T XP_011529076.1:p.Arg1027Trp
XM_011530775.1:c.3079C>T XP_011529077.1:p.Arg1027Trp
XM_011530776.1:c.3079C>T XP_011529078.1:p.Arg1027Trp
XM_011530777.1:c.3079C>T XP_011529079.1:p.Arg1027Trp
XR_938365.1:n.3306C>T
XM_006724579.3:c.3079C>T XP_006724642.1:p.Arg1027Trp
XM_006724580.3:c.2368C>T XP_006724643.1:p.Arg790Trp
XM_006724581.4:c.3079C>T XP_006724644.1:p.Arg1027Trp
XM_006724582.4:c.3079C>T XP_006724645.1:p.Arg1027Trp
XM_006724583.4:c.3079C>T XP_006724646.1:p.Arg1027Trp
XM_006724584.3:c.3079C>T XP_006724647.1:p.Arg1027Trp
XM_011530773.2:c.2272C>T XP_011529075.1:p.Arg758Trp
XM_011530774.3:c.3079C>T XP_011529076.1:p.Arg1027Trp
XM_011530776.2:c.3079C>T XP_011529078.1:p.Arg1027Trp
XM_011530777.2:c.3079C>T XP_011529079.1:p.Arg1027Trp
XM_017029359.2:c.2953C>T XP_016884848.1:p.Arg985Trp
XM_017029360.1:c.2485C>T XP_016884849.1:p.Arg829Trp
XR_938365.2:n.3300C>T
NM_001111125.3:c.2983C>T MANE Select NP_001104595.1:p.Arg995Trp
NM_015075.2:c.2368C>T NP_055890.1:p.Arg790Trp