Canonical Allele Identifier: CA413171571
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53255903T>A , CM000685.2:g.53255903T>A GRCh38
NC_000023.10:g.53285085T>A , CM000685.1:g.53285085T>A GRCh37
NC_000023.9:g.53301810T>A NCBI36
NG_021296.1:g.70438A>T
NG_021296.2:g.70448A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.1055A>T ENSP00000516672.1:p.Gln352Leu
ENST00000638630.1:c.185A>T ENSP00000492390.1:p.Gln62Leu
ENST00000640694.1:c.896A>T ENSP00000492403.1:p.Gln299Leu
ENST00000642864.1:c.896A>T MANE Select ENSP00000495726.1:p.Gln299Leu
ENST00000674510.1:c.896A>T ENSP00000502054.1:p.Gln299Leu
ENST00000675719.1:c.866A>T ENSP00000501927.1:p.Gln289Leu
ENST00000375365.2:c.281A>T ENSP00000364514.2:p.Gln94Leu
ENST00000396435.7:c.896A>T ENSP00000379712.3:p.Gln299Leu
NM_001111125.2:c.896A>T NP_001104595.1:p.Gln299Leu
NM_015075.1:c.281A>T NP_055890.1:p.Gln94Leu
XM_006724579.2:c.992A>T XP_006724642.1:p.Gln331Leu
XM_006724580.2:c.281A>T XP_006724643.1:p.Gln94Leu
XM_006724581.2:c.992A>T XP_006724644.1:p.Gln331Leu
XM_006724582.2:c.992A>T XP_006724645.1:p.Gln331Leu
XM_006724583.2:c.992A>T XP_006724646.1:p.Gln331Leu
XM_006724584.2:c.992A>T XP_006724647.1:p.Gln331Leu
XM_011530772.1:c.218A>T XP_011529074.1:p.Gln73Leu
XM_011530773.1:c.185A>T XP_011529075.1:p.Gln62Leu
XM_011530774.1:c.992A>T XP_011529076.1:p.Gln331Leu
XM_011530775.1:c.992A>T XP_011529077.1:p.Gln331Leu
XM_011530776.1:c.992A>T XP_011529078.1:p.Gln331Leu
XM_011530777.1:c.992A>T XP_011529079.1:p.Gln331Leu
XR_938365.1:n.1219A>T
XM_006724579.3:c.992A>T XP_006724642.1:p.Gln331Leu
XM_006724580.3:c.281A>T XP_006724643.1:p.Gln94Leu
XM_006724581.4:c.992A>T XP_006724644.1:p.Gln331Leu
XM_006724582.4:c.992A>T XP_006724645.1:p.Gln331Leu
XM_006724583.4:c.992A>T XP_006724646.1:p.Gln331Leu
XM_006724584.3:c.992A>T XP_006724647.1:p.Gln331Leu
XM_011530773.2:c.185A>T XP_011529075.1:p.Gln62Leu
XM_011530774.3:c.992A>T XP_011529076.1:p.Gln331Leu
XM_011530776.2:c.992A>T XP_011529078.1:p.Gln331Leu
XM_011530777.2:c.992A>T XP_011529079.1:p.Gln331Leu
XM_017029359.2:c.866A>T XP_016884848.1:p.Gln289Leu
XM_017029360.1:c.398A>T XP_016884849.1:p.Gln133Leu
XR_938365.2:n.1213A>T
NM_001111125.3:c.896A>T MANE Select NP_001104595.1:p.Gln299Leu
NM_015075.2:c.281A>T NP_055890.1:p.Gln94Leu