Canonical Allele Identifier: CA413170967
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53255805T>A , CM000685.2:g.53255805T>A GRCh38
NC_000023.10:g.53284987T>A , CM000685.1:g.53284987T>A GRCh37
NC_000023.9:g.53301712T>A NCBI36
NG_021296.1:g.70536A>T
NG_021296.2:g.70546A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.1153A>T ENSP00000516672.1:p.Lys385Ter
ENST00000638630.1:c.283A>T ENSP00000492390.1:p.Lys95Ter
ENST00000640694.1:c.994A>T ENSP00000492403.1:p.Lys332Ter
ENST00000642864.1:c.994A>T MANE Select ENSP00000495726.1:p.Lys332Ter
ENST00000674510.1:c.994A>T ENSP00000502054.1:p.Lys332Ter
ENST00000675719.1:c.964A>T ENSP00000501927.1:p.Lys322Ter
ENST00000375365.2:c.379A>T ENSP00000364514.2:p.Lys127Ter
ENST00000396435.7:c.994A>T ENSP00000379712.3:p.Lys332Ter
NM_001111125.2:c.994A>T NP_001104595.1:p.Lys332Ter
NM_015075.1:c.379A>T NP_055890.1:p.Lys127Ter
XM_006724579.2:c.1090A>T XP_006724642.1:p.Lys364Ter
XM_006724580.2:c.379A>T XP_006724643.1:p.Lys127Ter
XM_006724581.2:c.1090A>T XP_006724644.1:p.Lys364Ter
XM_006724582.2:c.1090A>T XP_006724645.1:p.Lys364Ter
XM_006724583.2:c.1090A>T XP_006724646.1:p.Lys364Ter
XM_006724584.2:c.1090A>T XP_006724647.1:p.Lys364Ter
XM_011530772.1:c.316A>T XP_011529074.1:p.Lys106Ter
XM_011530773.1:c.283A>T XP_011529075.1:p.Lys95Ter
XM_011530774.1:c.1090A>T XP_011529076.1:p.Lys364Ter
XM_011530775.1:c.1090A>T XP_011529077.1:p.Lys364Ter
XM_011530776.1:c.1090A>T XP_011529078.1:p.Lys364Ter
XM_011530777.1:c.1090A>T XP_011529079.1:p.Lys364Ter
XR_938365.1:n.1317A>T
XM_006724579.3:c.1090A>T XP_006724642.1:p.Lys364Ter
XM_006724580.3:c.379A>T XP_006724643.1:p.Lys127Ter
XM_006724581.4:c.1090A>T XP_006724644.1:p.Lys364Ter
XM_006724582.4:c.1090A>T XP_006724645.1:p.Lys364Ter
XM_006724583.4:c.1090A>T XP_006724646.1:p.Lys364Ter
XM_006724584.3:c.1090A>T XP_006724647.1:p.Lys364Ter
XM_011530773.2:c.283A>T XP_011529075.1:p.Lys95Ter
XM_011530774.3:c.1090A>T XP_011529076.1:p.Lys364Ter
XM_011530776.2:c.1090A>T XP_011529078.1:p.Lys364Ter
XM_011530777.2:c.1090A>T XP_011529079.1:p.Lys364Ter
XM_017029359.2:c.964A>T XP_016884848.1:p.Lys322Ter
XM_017029360.1:c.496A>T XP_016884849.1:p.Lys166Ter
XR_938365.2:n.1311A>T
NM_001111125.3:c.994A>T MANE Select NP_001104595.1:p.Lys332Ter
NM_015075.2:c.379A>T NP_055890.1:p.Lys127Ter