Canonical Allele Identifier: CA413149012

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1304810
• ClinVar RCV Id: RCV001765046
• dbSNP Id: rs2147049519
• MyVariant Identifiers: chrX:g.53271002A>C (hg19) ; chrX:g.53241820A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53241820A>C , CM000685.2:g.53241820A>C	GRCh38
NC_000023.10:g.53271002A>C , CM000685.1:g.53271002A>C	GRCh37
NC_000023.9:g.53287727A>C	NCBI36
NG_021296.1:g.84521T>G
NG_021296.2:g.84531T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3138T>G	ENSP00000516672.1:p.His1046Gln
ENST00000638521.1:c.931T>G
ENST00000638869.1:c.440T>G
ENST00000639642.1:c.269T>G
ENST00000640005.1:c.42T>G	ENSP00000491293.1:p.His14Gln
ENST00000640694.1:c.2979T>G	ENSP00000492403.1:p.His993Gln
ENST00000642864.1:c.2979T>G MANE Select	ENSP00000495726.1:p.His993Gln
ENST00000674510.1:c.2979T>G	ENSP00000502054.1:p.His993Gln
ENST00000674761.1:n.1286T>G
ENST00000675719.1:c.2949T>G	ENSP00000501927.1:p.His983Gln
ENST00000375365.2:c.2364T>G	ENSP00000364514.2:p.His788Gln
ENST00000396435.7:c.2979T>G	ENSP00000379712.3:p.His993Gln
NM_001111125.2:c.2979T>G	NP_001104595.1:p.His993Gln
NM_015075.1:c.2364T>G	NP_055890.1:p.His788Gln
XM_006724579.2:c.3075T>G	XP_006724642.1:p.His1025Gln
XM_006724580.2:c.2364T>G	XP_006724643.1:p.His788Gln
XM_006724581.2:c.3075T>G	XP_006724644.1:p.His1025Gln
XM_006724582.2:c.3075T>G	XP_006724645.1:p.His1025Gln
XM_006724583.2:c.3075T>G	XP_006724646.1:p.His1025Gln
XM_006724584.2:c.3075T>G	XP_006724647.1:p.His1025Gln
XM_011530772.1:c.2301T>G	XP_011529074.1:p.His767Gln
XM_011530773.1:c.2268T>G	XP_011529075.1:p.His756Gln
XM_011530774.1:c.3075T>G	XP_011529076.1:p.His1025Gln
XM_011530775.1:c.3075T>G	XP_011529077.1:p.His1025Gln
XM_011530776.1:c.3075T>G	XP_011529078.1:p.His1025Gln
XM_011530777.1:c.3075T>G	XP_011529079.1:p.His1025Gln
XR_938365.1:n.3302T>G
XM_006724579.3:c.3075T>G	XP_006724642.1:p.His1025Gln
XM_006724580.3:c.2364T>G	XP_006724643.1:p.His788Gln
XM_006724581.4:c.3075T>G	XP_006724644.1:p.His1025Gln
XM_006724582.4:c.3075T>G	XP_006724645.1:p.His1025Gln
XM_006724583.4:c.3075T>G	XP_006724646.1:p.His1025Gln
XM_006724584.3:c.3075T>G	XP_006724647.1:p.His1025Gln
XM_011530773.2:c.2268T>G	XP_011529075.1:p.His756Gln
XM_011530774.3:c.3075T>G	XP_011529076.1:p.His1025Gln
XM_011530776.2:c.3075T>G	XP_011529078.1:p.His1025Gln
XM_011530777.2:c.3075T>G	XP_011529079.1:p.His1025Gln
XM_017029359.2:c.2949T>G	XP_016884848.1:p.His983Gln
XM_017029360.1:c.2481T>G	XP_016884849.1:p.His827Gln
XR_938365.2:n.3296T>G
NM_001111125.3:c.2979T>G MANE Select	NP_001104595.1:p.His993Gln
NM_015075.2:c.2364T>G	NP_055890.1:p.His788Gln