Canonical Allele Identifier: CA516425250
Gene: IQSEC2 HGNC NCBI

Linked Data

gnomAD v4: X-53241886-T-A
MyVariant Identifiers: chrX:g.53271068T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241886T>A , CM000685.2:g.53241886T>A GRCh38
NC_000023.10:g.53271068T>A , CM000685.1:g.53271068T>A GRCh37
NC_000023.9:g.53287793T>A NCBI36
NG_021296.1:g.84455A>T
NG_021296.2:g.84465A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3072A>T ENSP00000516672.1:p.Arg1024=
ENST00000638521.1:c.865A>T
ENST00000638869.1:c.374A>T
ENST00000639642.1:c.203A>T
ENST00000640694.1:c.2913A>T ENSP00000492403.1:p.Arg971=
ENST00000642864.1:c.2913A>T MANE Select ENSP00000495726.1:p.Arg971=
ENST00000674510.1:c.2913A>T ENSP00000502054.1:p.Arg971=
ENST00000674761.1:n.1220A>T
ENST00000675719.1:c.2883A>T ENSP00000501927.1:p.Arg961=
ENST00000375365.2:c.2298A>T ENSP00000364514.2:p.Arg766=
ENST00000396435.7:c.2913A>T ENSP00000379712.3:p.Arg971=
NM_001111125.2:c.2913A>T NP_001104595.1:p.Arg971=
NM_015075.1:c.2298A>T NP_055890.1:p.Arg766=
XM_006724579.2:c.3009A>T XP_006724642.1:p.Arg1003=
XM_006724580.2:c.2298A>T XP_006724643.1:p.Arg766=
XM_006724581.2:c.3009A>T XP_006724644.1:p.Arg1003=
XM_006724582.2:c.3009A>T XP_006724645.1:p.Arg1003=
XM_006724583.2:c.3009A>T XP_006724646.1:p.Arg1003=
XM_006724584.2:c.3009A>T XP_006724647.1:p.Arg1003=
XM_011530772.1:c.2235A>T XP_011529074.1:p.Arg745=
XM_011530773.1:c.2202A>T XP_011529075.1:p.Arg734=
XM_011530774.1:c.3009A>T XP_011529076.1:p.Arg1003=
XM_011530775.1:c.3009A>T XP_011529077.1:p.Arg1003=
XM_011530776.1:c.3009A>T XP_011529078.1:p.Arg1003=
XM_011530777.1:c.3009A>T XP_011529079.1:p.Arg1003=
XR_938365.1:n.3236A>T
XM_006724579.3:c.3009A>T XP_006724642.1:p.Arg1003=
XM_006724580.3:c.2298A>T XP_006724643.1:p.Arg766=
XM_006724581.4:c.3009A>T XP_006724644.1:p.Arg1003=
XM_006724582.4:c.3009A>T XP_006724645.1:p.Arg1003=
XM_006724583.4:c.3009A>T XP_006724646.1:p.Arg1003=
XM_006724584.3:c.3009A>T XP_006724647.1:p.Arg1003=
XM_011530773.2:c.2202A>T XP_011529075.1:p.Arg734=
XM_011530774.3:c.3009A>T XP_011529076.1:p.Arg1003=
XM_011530776.2:c.3009A>T XP_011529078.1:p.Arg1003=
XM_011530777.2:c.3009A>T XP_011529079.1:p.Arg1003=
XM_017029359.2:c.2883A>T XP_016884848.1:p.Arg961=
XM_017029360.1:c.2415A>T XP_016884849.1:p.Arg805=
XR_938365.2:n.3230A>T
NM_001111125.3:c.2913A>T MANE Select NP_001104595.1:p.Arg971=
NM_015075.2:c.2298A>T NP_055890.1:p.Arg766=