Canonical Allele Identifier: CA413148941
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.3142C>G ENSP00000516672.1:p.Arg1048Gly
ENST00000638521.1:c.935C>G
ENST00000638869.1:c.444C>G
ENST00000639642.1:c.273C>G
ENST00000640005.1:c.46C>G ENSP00000491293.1:p.Arg16Gly
ENST00000640694.1:c.2983C>G ENSP00000492403.1:p.Arg995Gly
ENST00000642864.1:c.2983C>G MANE Select ENSP00000495726.1:p.Arg995Gly
ENST00000674510.1:c.2983C>G ENSP00000502054.1:p.Arg995Gly
ENST00000674761.1:n.1290C>G
ENST00000675719.1:c.2953C>G ENSP00000501927.1:p.Arg985Gly
ENST00000375365.2:c.2368C>G ENSP00000364514.2:p.Arg790Gly
ENST00000396435.7:c.2983C>G ENSP00000379712.3:p.Arg995Gly
NM_001111125.2:c.2983C>G NP_001104595.1:p.Arg995Gly
NM_015075.1:c.2368C>G NP_055890.1:p.Arg790Gly
XM_006724579.2:c.3079C>G XP_006724642.1:p.Arg1027Gly
XM_006724580.2:c.2368C>G XP_006724643.1:p.Arg790Gly
XM_006724581.2:c.3079C>G XP_006724644.1:p.Arg1027Gly
XM_006724582.2:c.3079C>G XP_006724645.1:p.Arg1027Gly
XM_006724583.2:c.3079C>G XP_006724646.1:p.Arg1027Gly
XM_006724584.2:c.3079C>G XP_006724647.1:p.Arg1027Gly
XM_011530772.1:c.2305C>G XP_011529074.1:p.Arg769Gly
XM_011530773.1:c.2272C>G XP_011529075.1:p.Arg758Gly
XM_011530774.1:c.3079C>G XP_011529076.1:p.Arg1027Gly
XM_011530775.1:c.3079C>G XP_011529077.1:p.Arg1027Gly
XM_011530776.1:c.3079C>G XP_011529078.1:p.Arg1027Gly
XM_011530777.1:c.3079C>G XP_011529079.1:p.Arg1027Gly
XR_938365.1:n.3306C>G
XM_006724579.3:c.3079C>G XP_006724642.1:p.Arg1027Gly
XM_006724580.3:c.2368C>G XP_006724643.1:p.Arg790Gly
XM_006724581.4:c.3079C>G XP_006724644.1:p.Arg1027Gly
XM_006724582.4:c.3079C>G XP_006724645.1:p.Arg1027Gly
XM_006724583.4:c.3079C>G XP_006724646.1:p.Arg1027Gly
XM_006724584.3:c.3079C>G XP_006724647.1:p.Arg1027Gly
XM_011530773.2:c.2272C>G XP_011529075.1:p.Arg758Gly
XM_011530774.3:c.3079C>G XP_011529076.1:p.Arg1027Gly
XM_011530776.2:c.3079C>G XP_011529078.1:p.Arg1027Gly
XM_011530777.2:c.3079C>G XP_011529079.1:p.Arg1027Gly
XM_017029359.2:c.2953C>G XP_016884848.1:p.Arg985Gly
XM_017029360.1:c.2485C>G XP_016884849.1:p.Arg829Gly
XR_938365.2:n.3300C>G
NM_001111125.3:c.2983C>G MANE Select NP_001104595.1:p.Arg995Gly
NM_015075.2:c.2368C>G NP_055890.1:p.Arg790Gly