Canonical Allele Identifier: CA413173924
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53279565T>G , CM000685.2:g.53279565T>G GRCh38
NC_000023.10:g.53308747T>G , CM000685.1:g.53308747T>G GRCh37
NC_000023.9:g.53325472T>G NCBI36
NG_021296.1:g.46776A>C
NG_021296.2:g.46786A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.896+12330A>C ENSP00000516672.1:n.896+12330A>C
ENST00000462054.6:n.172A>C
ENST00000498281.2:c.121A>C ENSP00000491470.1:p.Arg41=
ENST00000638583.1:c.238A>C ENSP00000491820.1:p.Arg80=
ENST00000638630.1:c.26+1931A>C ENSP00000492390.1:n.26+1931A>C
ENST00000639161.2:c.121A>C MANE Plus Clinical ENSP00000491796.1:p.Arg41=
ENST00000639485.1:c.117A>C
ENST00000639543.1:n.178A>C
ENST00000640694.1:c.737+12330A>C ENSP00000492403.1:n.737+12330A>C
ENST00000642864.1:c.737+12330A>C MANE Select ENSP00000495726.1:n.737+12330A>C
ENST00000674510.1:c.737+12330A>C ENSP00000502054.1:n.737+12330A>C
ENST00000675719.1:c.708-23504A>C ENSP00000501927.1:n.708-23504A>C
ENST00000675731.1:c.26+1931A>C ENSP00000502165.1:n.26+1931A>C
ENST00000375365.2:c.121A>C ENSP00000364514.2:p.Ser41Arg
ENST00000396435.7:c.737+12330A>C ENSP00000379712.3:n.737+12330A>C
ENST00000462054.5:n.194A>C
ENST00000485377.5:n.99+1931A>C
ENST00000498281.1:n.194A>C
NM_001111125.2:c.737+12330A>C NP_001104595.1:n.737+12330A>C
NM_001243197.1:c.121A>C NP_001230126.1:p.Arg41=
NM_015075.1:c.121A>C NP_055890.1:p.Ser41Arg
XM_006724579.2:c.832A>C XP_006724642.1:p.Ser278Arg
XM_006724580.2:c.121A>C XP_006724643.1:p.Ser41Arg
XM_006724581.2:c.832A>C XP_006724644.1:p.Ser278Arg
XM_006724582.2:c.832A>C XP_006724645.1:p.Ser278Arg
XM_006724583.2:c.832A>C XP_006724646.1:p.Ser278Arg
XM_006724584.2:c.832A>C XP_006724647.1:p.Ser278Arg
XM_011530773.1:c.26+1931A>C XP_011529075.1:n.26+1931A>C
XM_011530774.1:c.832A>C XP_011529076.1:p.Ser278Arg
XM_011530775.1:c.832A>C XP_011529077.1:p.Ser278Arg
XM_011530776.1:c.832A>C XP_011529078.1:p.Ser278Arg
XM_011530777.1:c.832A>C XP_011529079.1:p.Ser278Arg
XR_938365.1:n.1059A>C
XM_006724579.3:c.832A>C XP_006724642.1:p.Ser278Arg
XM_006724580.3:c.121A>C XP_006724643.1:p.Ser41Arg
XM_006724581.4:c.832A>C XP_006724644.1:p.Ser278Arg
XM_006724582.4:c.832A>C XP_006724645.1:p.Ser278Arg
XM_006724583.4:c.832A>C XP_006724646.1:p.Ser278Arg
XM_006724584.3:c.832A>C XP_006724647.1:p.Ser278Arg
XM_011530773.2:c.26+1931A>C XP_011529075.1:n.26+1931A>C
XM_011530774.3:c.832A>C XP_011529076.1:p.Ser278Arg
XM_011530776.2:c.832A>C XP_011529078.1:p.Ser278Arg
XM_011530777.2:c.832A>C XP_011529079.1:p.Ser278Arg
XM_017029359.2:c.708-23504A>C XP_016884848.1:n.708-23504A>C
XM_017029360.1:c.238A>C XP_016884849.1:p.Ser80Arg
XR_938365.2:n.1053A>C
NM_001111125.3:c.737+12330A>C MANE Select NP_001104595.1:n.737+12330A>C
NM_001243197.2:c.121A>C MANE Plus Clinical NP_001230126.1:p.Arg41=
NM_015075.2:c.121A>C NP_055890.1:p.Ser41Arg