Canonical Allele Identifier: CA413163358
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426667
ClinVar RCV Id: RCV000489894 RCV001809444
dbSNP Id: rs1085307736
gnomAD v4: X-53250751-G-A
MyVariant Identifiers: chrX:g.53279933G>A (hg19) chrX:g.53250751G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53250751G>A , CM000685.2:g.53250751G>A GRCh38
NC_000023.10:g.53279933G>A , CM000685.1:g.53279933G>A GRCh37
NC_000023.9:g.53296658G>A NCBI36
NG_021296.1:g.75590C>T
NG_021296.2:g.75600C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.1984C>T ENSP00000516672.1:p.Arg662Cys
ENST00000640694.1:c.1825C>T ENSP00000492403.1:p.Arg609Cys
ENST00000642864.1:c.1825C>T MANE Select ENSP00000495726.1:p.Arg609Cys
ENST00000674510.1:c.1825C>T ENSP00000502054.1:p.Arg609Cys
ENST00000675719.1:c.1795C>T ENSP00000501927.1:p.Arg599Cys
ENST00000375365.2:c.1210C>T ENSP00000364514.2:p.Arg404Cys
ENST00000396435.7:c.1825C>T ENSP00000379712.3:p.Arg609Cys
NM_001111125.2:c.1825C>T NP_001104595.1:p.Arg609Cys
NM_015075.1:c.1210C>T NP_055890.1:p.Arg404Cys
XM_006724579.2:c.1921C>T XP_006724642.1:p.Arg641Cys
XM_006724580.2:c.1210C>T XP_006724643.1:p.Arg404Cys
XM_006724581.2:c.1921C>T XP_006724644.1:p.Arg641Cys
XM_006724582.2:c.1921C>T XP_006724645.1:p.Arg641Cys
XM_006724583.2:c.1921C>T XP_006724646.1:p.Arg641Cys
XM_006724584.2:c.1921C>T XP_006724647.1:p.Arg641Cys
XM_011530772.1:c.1147C>T XP_011529074.1:p.Arg383Cys
XM_011530773.1:c.1114C>T XP_011529075.1:p.Arg372Cys
XM_011530774.1:c.1921C>T XP_011529076.1:p.Arg641Cys
XM_011530775.1:c.1921C>T XP_011529077.1:p.Arg641Cys
XM_011530776.1:c.1921C>T XP_011529078.1:p.Arg641Cys
XM_011530777.1:c.1921C>T XP_011529079.1:p.Arg641Cys
XR_938365.1:n.2148C>T
XM_006724579.3:c.1921C>T XP_006724642.1:p.Arg641Cys
XM_006724580.3:c.1210C>T XP_006724643.1:p.Arg404Cys
XM_006724581.4:c.1921C>T XP_006724644.1:p.Arg641Cys
XM_006724582.4:c.1921C>T XP_006724645.1:p.Arg641Cys
XM_006724583.4:c.1921C>T XP_006724646.1:p.Arg641Cys
XM_006724584.3:c.1921C>T XP_006724647.1:p.Arg641Cys
XM_011530773.2:c.1114C>T XP_011529075.1:p.Arg372Cys
XM_011530774.3:c.1921C>T XP_011529076.1:p.Arg641Cys
XM_011530776.2:c.1921C>T XP_011529078.1:p.Arg641Cys
XM_011530777.2:c.1921C>T XP_011529079.1:p.Arg641Cys
XM_017029359.2:c.1795C>T XP_016884848.1:p.Arg599Cys
XM_017029360.1:c.1327C>T XP_016884849.1:p.Arg443Cys
XR_938365.2:n.2142C>T
NM_001111125.3:c.1825C>T MANE Select NP_001104595.1:p.Arg609Cys
NM_015075.2:c.1210C>T NP_055890.1:p.Arg404Cys
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