Canonical Allele Identifier: CA413163002
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53250695G>T , CM000685.2:g.53250695G>T GRCh38
NC_000023.10:g.53279877G>T , CM000685.1:g.53279877G>T GRCh37
NC_000023.9:g.53296602G>T NCBI36
NG_021296.1:g.75646C>A
NG_021296.2:g.75656C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.2040C>A ENSP00000516672.1:p.Ser680Arg
ENST00000640694.1:c.1881C>A ENSP00000492403.1:p.Ser627Arg
ENST00000642864.1:c.1881C>A MANE Select ENSP00000495726.1:p.Ser627Arg
ENST00000674510.1:c.1881C>A ENSP00000502054.1:p.Ser627Arg
ENST00000675719.1:c.1851C>A ENSP00000501927.1:p.Ser617Arg
ENST00000375365.2:c.1266C>A ENSP00000364514.2:p.Ser422Arg
ENST00000396435.7:c.1881C>A ENSP00000379712.3:p.Ser627Arg
NM_001111125.2:c.1881C>A NP_001104595.1:p.Ser627Arg
NM_015075.1:c.1266C>A NP_055890.1:p.Ser422Arg
XM_006724579.2:c.1977C>A XP_006724642.1:p.Ser659Arg
XM_006724580.2:c.1266C>A XP_006724643.1:p.Ser422Arg
XM_006724581.2:c.1977C>A XP_006724644.1:p.Ser659Arg
XM_006724582.2:c.1977C>A XP_006724645.1:p.Ser659Arg
XM_006724583.2:c.1977C>A XP_006724646.1:p.Ser659Arg
XM_006724584.2:c.1977C>A XP_006724647.1:p.Ser659Arg
XM_011530772.1:c.1203C>A XP_011529074.1:p.Ser401Arg
XM_011530773.1:c.1170C>A XP_011529075.1:p.Ser390Arg
XM_011530774.1:c.1977C>A XP_011529076.1:p.Ser659Arg
XM_011530775.1:c.1977C>A XP_011529077.1:p.Ser659Arg
XM_011530776.1:c.1977C>A XP_011529078.1:p.Ser659Arg
XM_011530777.1:c.1977C>A XP_011529079.1:p.Ser659Arg
XR_938365.1:n.2204C>A
XM_006724579.3:c.1977C>A XP_006724642.1:p.Ser659Arg
XM_006724580.3:c.1266C>A XP_006724643.1:p.Ser422Arg
XM_006724581.4:c.1977C>A XP_006724644.1:p.Ser659Arg
XM_006724582.4:c.1977C>A XP_006724645.1:p.Ser659Arg
XM_006724583.4:c.1977C>A XP_006724646.1:p.Ser659Arg
XM_006724584.3:c.1977C>A XP_006724647.1:p.Ser659Arg
XM_011530773.2:c.1170C>A XP_011529075.1:p.Ser390Arg
XM_011530774.3:c.1977C>A XP_011529076.1:p.Ser659Arg
XM_011530776.2:c.1977C>A XP_011529078.1:p.Ser659Arg
XM_011530777.2:c.1977C>A XP_011529079.1:p.Ser659Arg
XM_017029359.2:c.1851C>A XP_016884848.1:p.Ser617Arg
XM_017029360.1:c.1383C>A XP_016884849.1:p.Ser461Arg
XR_938365.2:n.2198C>A
NM_001111125.3:c.1881C>A MANE Select NP_001104595.1:p.Ser627Arg
NM_015075.2:c.1266C>A NP_055890.1:p.Ser422Arg