Canonical Allele Identifier: CA16608946
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380487
ClinVar RCV Id: RCV000422126 RCV000503313
dbSNP Id: rs1057520858
gnomAD v4: X-53243445-G-A
MyVariant Identifiers: chrX:g.53272627G>A (hg19) chrX:g.53243445G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53243445G>A , CM000685.2:g.53243445G>A GRCh38
NC_000023.10:g.53272627G>A , CM000685.1:g.53272627G>A GRCh37
NC_000023.9:g.53289352G>A NCBI36
NG_021296.1:g.82896C>T
NG_021296.2:g.82906C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.2935C>T ENSP00000516672.1:p.Arg979Ter
ENST00000638521.1:c.728C>T
ENST00000638869.1:c.237C>T
ENST00000639642.1:c.66C>T
ENST00000640694.1:c.2776C>T ENSP00000492403.1:p.Arg926Ter
ENST00000642864.1:c.2776C>T MANE Select ENSP00000495726.1:p.Arg926Ter
ENST00000674510.1:c.2776C>T ENSP00000502054.1:p.Arg926Ter
ENST00000674761.1:n.527C>T
ENST00000675719.1:c.2746C>T ENSP00000501927.1:p.Arg916Ter
ENST00000375365.2:c.2161C>T ENSP00000364514.2:p.Arg721Ter
ENST00000396435.7:c.2776C>T ENSP00000379712.3:p.Arg926Ter
NM_001111125.2:c.2776C>T NP_001104595.1:p.Arg926Ter
NM_015075.1:c.2161C>T NP_055890.1:p.Arg721Ter
XM_006724579.2:c.2872C>T XP_006724642.1:p.Arg958Ter
XM_006724580.2:c.2161C>T XP_006724643.1:p.Arg721Ter
XM_006724581.2:c.2872C>T XP_006724644.1:p.Arg958Ter
XM_006724582.2:c.2872C>T XP_006724645.1:p.Arg958Ter
XM_006724583.2:c.2872C>T XP_006724646.1:p.Arg958Ter
XM_006724584.2:c.2872C>T XP_006724647.1:p.Arg958Ter
XM_011530772.1:c.2098C>T XP_011529074.1:p.Arg700Ter
XM_011530773.1:c.2065C>T XP_011529075.1:p.Arg689Ter
XM_011530774.1:c.2872C>T XP_011529076.1:p.Arg958Ter
XM_011530775.1:c.2872C>T XP_011529077.1:p.Arg958Ter
XM_011530776.1:c.2872C>T XP_011529078.1:p.Arg958Ter
XM_011530777.1:c.2872C>T XP_011529079.1:p.Arg958Ter
XR_938365.1:n.3099C>T
XM_006724579.3:c.2872C>T XP_006724642.1:p.Arg958Ter
XM_006724580.3:c.2161C>T XP_006724643.1:p.Arg721Ter
XM_006724581.4:c.2872C>T XP_006724644.1:p.Arg958Ter
XM_006724582.4:c.2872C>T XP_006724645.1:p.Arg958Ter
XM_006724583.4:c.2872C>T XP_006724646.1:p.Arg958Ter
XM_006724584.3:c.2872C>T XP_006724647.1:p.Arg958Ter
XM_011530773.2:c.2065C>T XP_011529075.1:p.Arg689Ter
XM_011530774.3:c.2872C>T XP_011529076.1:p.Arg958Ter
XM_011530776.2:c.2872C>T XP_011529078.1:p.Arg958Ter
XM_011530777.2:c.2872C>T XP_011529079.1:p.Arg958Ter
XM_017029359.2:c.2746C>T XP_016884848.1:p.Arg916Ter
XM_017029360.1:c.2278C>T XP_016884849.1:p.Arg760Ter
XR_938365.2:n.3093C>T
NM_001111125.3:c.2776C>T MANE Select NP_001104595.1:p.Arg926Ter
NM_015075.2:c.2161C>T NP_055890.1:p.Arg721Ter
Search 100 bp 5'
Search 100 bp 3'