Canonical Allele Identifier: CA516424859
Gene: IQSEC2 HGNC NCBI

Linked Data

gnomAD v4: X-53241835-C-T
MyVariant Identifiers: chrX:g.53271017C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241835C>T , CM000685.2:g.53241835C>T GRCh38
NC_000023.10:g.53271017C>T , CM000685.1:g.53271017C>T GRCh37
NC_000023.9:g.53287742C>T NCBI36
NG_021296.1:g.84506G>A
NG_021296.2:g.84516G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3123G>A ENSP00000516672.1:p.Gln1041=
ENST00000638521.1:c.916G>A
ENST00000638869.1:c.425G>A
ENST00000639642.1:c.254G>A
ENST00000640005.1:c.27G>A ENSP00000491293.1:p.Gln9=
ENST00000640694.1:c.2964G>A ENSP00000492403.1:p.Gln988=
ENST00000642864.1:c.2964G>A MANE Select ENSP00000495726.1:p.Gln988=
ENST00000674510.1:c.2964G>A ENSP00000502054.1:p.Gln988=
ENST00000674761.1:n.1271G>A
ENST00000675719.1:c.2934G>A ENSP00000501927.1:p.Gln978=
ENST00000375365.2:c.2349G>A ENSP00000364514.2:p.Gln783=
ENST00000396435.7:c.2964G>A ENSP00000379712.3:p.Gln988=
NM_001111125.2:c.2964G>A NP_001104595.1:p.Gln988=
NM_015075.1:c.2349G>A NP_055890.1:p.Gln783=
XM_006724579.2:c.3060G>A XP_006724642.1:p.Gln1020=
XM_006724580.2:c.2349G>A XP_006724643.1:p.Gln783=
XM_006724581.2:c.3060G>A XP_006724644.1:p.Gln1020=
XM_006724582.2:c.3060G>A XP_006724645.1:p.Gln1020=
XM_006724583.2:c.3060G>A XP_006724646.1:p.Gln1020=
XM_006724584.2:c.3060G>A XP_006724647.1:p.Gln1020=
XM_011530772.1:c.2286G>A XP_011529074.1:p.Gln762=
XM_011530773.1:c.2253G>A XP_011529075.1:p.Gln751=
XM_011530774.1:c.3060G>A XP_011529076.1:p.Gln1020=
XM_011530775.1:c.3060G>A XP_011529077.1:p.Gln1020=
XM_011530776.1:c.3060G>A XP_011529078.1:p.Gln1020=
XM_011530777.1:c.3060G>A XP_011529079.1:p.Gln1020=
XR_938365.1:n.3287G>A
XM_006724579.3:c.3060G>A XP_006724642.1:p.Gln1020=
XM_006724580.3:c.2349G>A XP_006724643.1:p.Gln783=
XM_006724581.4:c.3060G>A XP_006724644.1:p.Gln1020=
XM_006724582.4:c.3060G>A XP_006724645.1:p.Gln1020=
XM_006724583.4:c.3060G>A XP_006724646.1:p.Gln1020=
XM_006724584.3:c.3060G>A XP_006724647.1:p.Gln1020=
XM_011530773.2:c.2253G>A XP_011529075.1:p.Gln751=
XM_011530774.3:c.3060G>A XP_011529076.1:p.Gln1020=
XM_011530776.2:c.3060G>A XP_011529078.1:p.Gln1020=
XM_011530777.2:c.3060G>A XP_011529079.1:p.Gln1020=
XM_017029359.2:c.2934G>A XP_016884848.1:p.Gln978=
XM_017029360.1:c.2466G>A XP_016884849.1:p.Gln822=
XR_938365.2:n.3281G>A
NM_001111125.3:c.2964G>A MANE Select NP_001104595.1:p.Gln988=
NM_015075.2:c.2349G>A NP_055890.1:p.Gln783=