Canonical Allele Identifier: CA413171997
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53255978A>T , CM000685.2:g.53255978A>T GRCh38
NC_000023.10:g.53285160A>T , CM000685.1:g.53285160A>T GRCh37
NC_000023.9:g.53301885A>T NCBI36
NG_021296.1:g.70363T>A
NG_021296.2:g.70373T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.980T>A ENSP00000516672.1:p.Leu327Gln
ENST00000638630.1:c.110T>A ENSP00000492390.1:p.Leu37Gln
ENST00000640694.1:c.821T>A ENSP00000492403.1:p.Leu274Gln
ENST00000642864.1:c.821T>A MANE Select ENSP00000495726.1:p.Leu274Gln
ENST00000674510.1:c.821T>A ENSP00000502054.1:p.Leu274Gln
ENST00000675719.1:c.791T>A ENSP00000501927.1:p.Leu264Gln
ENST00000375365.2:c.206T>A ENSP00000364514.2:p.Leu69Gln
ENST00000396435.7:c.821T>A ENSP00000379712.3:p.Leu274Gln
NM_001111125.2:c.821T>A NP_001104595.1:p.Leu274Gln
NM_015075.1:c.206T>A NP_055890.1:p.Leu69Gln
XM_006724579.2:c.917T>A XP_006724642.1:p.Leu306Gln
XM_006724580.2:c.206T>A XP_006724643.1:p.Leu69Gln
XM_006724581.2:c.917T>A XP_006724644.1:p.Leu306Gln
XM_006724582.2:c.917T>A XP_006724645.1:p.Leu306Gln
XM_006724583.2:c.917T>A XP_006724646.1:p.Leu306Gln
XM_006724584.2:c.917T>A XP_006724647.1:p.Leu306Gln
XM_011530772.1:c.143T>A XP_011529074.1:p.Leu48Gln
XM_011530773.1:c.110T>A XP_011529075.1:p.Leu37Gln
XM_011530774.1:c.917T>A XP_011529076.1:p.Leu306Gln
XM_011530775.1:c.917T>A XP_011529077.1:p.Leu306Gln
XM_011530776.1:c.917T>A XP_011529078.1:p.Leu306Gln
XM_011530777.1:c.917T>A XP_011529079.1:p.Leu306Gln
XR_938365.1:n.1144T>A
XM_006724579.3:c.917T>A XP_006724642.1:p.Leu306Gln
XM_006724580.3:c.206T>A XP_006724643.1:p.Leu69Gln
XM_006724581.4:c.917T>A XP_006724644.1:p.Leu306Gln
XM_006724582.4:c.917T>A XP_006724645.1:p.Leu306Gln
XM_006724583.4:c.917T>A XP_006724646.1:p.Leu306Gln
XM_006724584.3:c.917T>A XP_006724647.1:p.Leu306Gln
XM_011530773.2:c.110T>A XP_011529075.1:p.Leu37Gln
XM_011530774.3:c.917T>A XP_011529076.1:p.Leu306Gln
XM_011530776.2:c.917T>A XP_011529078.1:p.Leu306Gln
XM_011530777.2:c.917T>A XP_011529079.1:p.Leu306Gln
XM_017029359.2:c.791T>A XP_016884848.1:p.Leu264Gln
XM_017029360.1:c.323T>A XP_016884849.1:p.Leu108Gln
XR_938365.2:n.1138T>A
NM_001111125.3:c.821T>A MANE Select NP_001104595.1:p.Leu274Gln
NM_015075.2:c.206T>A NP_055890.1:p.Leu69Gln