Canonical Allele Identifier: CA516424852
Gene: IQSEC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53271016T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241834T>G , CM000685.2:g.53241834T>G GRCh38
NC_000023.10:g.53271016T>G , CM000685.1:g.53271016T>G GRCh37
NC_000023.9:g.53287741T>G NCBI36
NG_021296.1:g.84507A>C
NG_021296.2:g.84517A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3124A>C ENSP00000516672.1:p.Arg1042=
ENST00000638521.1:c.917A>C
ENST00000638869.1:c.426A>C
ENST00000639642.1:c.255A>C
ENST00000640005.1:c.28A>C ENSP00000491293.1:p.Arg10=
ENST00000640694.1:c.2965A>C ENSP00000492403.1:p.Arg989=
ENST00000642864.1:c.2965A>C MANE Select ENSP00000495726.1:p.Arg989=
ENST00000674510.1:c.2965A>C ENSP00000502054.1:p.Arg989=
ENST00000674761.1:n.1272A>C
ENST00000675719.1:c.2935A>C ENSP00000501927.1:p.Arg979=
ENST00000375365.2:c.2350A>C ENSP00000364514.2:p.Arg784=
ENST00000396435.7:c.2965A>C ENSP00000379712.3:p.Arg989=
NM_001111125.2:c.2965A>C NP_001104595.1:p.Arg989=
NM_015075.1:c.2350A>C NP_055890.1:p.Arg784=
XM_006724579.2:c.3061A>C XP_006724642.1:p.Arg1021=
XM_006724580.2:c.2350A>C XP_006724643.1:p.Arg784=
XM_006724581.2:c.3061A>C XP_006724644.1:p.Arg1021=
XM_006724582.2:c.3061A>C XP_006724645.1:p.Arg1021=
XM_006724583.2:c.3061A>C XP_006724646.1:p.Arg1021=
XM_006724584.2:c.3061A>C XP_006724647.1:p.Arg1021=
XM_011530772.1:c.2287A>C XP_011529074.1:p.Arg763=
XM_011530773.1:c.2254A>C XP_011529075.1:p.Arg752=
XM_011530774.1:c.3061A>C XP_011529076.1:p.Arg1021=
XM_011530775.1:c.3061A>C XP_011529077.1:p.Arg1021=
XM_011530776.1:c.3061A>C XP_011529078.1:p.Arg1021=
XM_011530777.1:c.3061A>C XP_011529079.1:p.Arg1021=
XR_938365.1:n.3288A>C
XM_006724579.3:c.3061A>C XP_006724642.1:p.Arg1021=
XM_006724580.3:c.2350A>C XP_006724643.1:p.Arg784=
XM_006724581.4:c.3061A>C XP_006724644.1:p.Arg1021=
XM_006724582.4:c.3061A>C XP_006724645.1:p.Arg1021=
XM_006724583.4:c.3061A>C XP_006724646.1:p.Arg1021=
XM_006724584.3:c.3061A>C XP_006724647.1:p.Arg1021=
XM_011530773.2:c.2254A>C XP_011529075.1:p.Arg752=
XM_011530774.3:c.3061A>C XP_011529076.1:p.Arg1021=
XM_011530776.2:c.3061A>C XP_011529078.1:p.Arg1021=
XM_011530777.2:c.3061A>C XP_011529079.1:p.Arg1021=
XM_017029359.2:c.2935A>C XP_016884848.1:p.Arg979=
XM_017029360.1:c.2467A>C XP_016884849.1:p.Arg823=
XR_938365.2:n.3282A>C
NM_001111125.3:c.2965A>C MANE Select NP_001104595.1:p.Arg989=
NM_015075.2:c.2350A>C NP_055890.1:p.Arg784=