Canonical Allele Identifier: CA413157926

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1721433
• ClinVar RCV Id: RCV002300418
• MyVariant Identifiers: chrX:g.53277940C>T (hg19) ; chrX:g.53248758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53248758C>T , CM000685.2:g.53248758C>T	GRCh38
NC_000023.10:g.53277940C>T , CM000685.1:g.53277940C>T	GRCh37
NC_000023.9:g.53294665C>T	NCBI36
NG_021296.1:g.77583G>A
NG_021296.2:g.77593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2581G>A	ENSP00000516672.1:p.Gly861Arg
ENST00000638521.1:c.374G>A
ENST00000640694.1:c.2422G>A	ENSP00000492403.1:p.Gly808Arg
ENST00000642864.1:c.2422G>A MANE Select	ENSP00000495726.1:p.Gly808Arg
ENST00000674510.1:c.2422G>A	ENSP00000502054.1:p.Gly808Arg
ENST00000675719.1:c.2392G>A	ENSP00000501927.1:p.Gly798Arg
ENST00000375365.2:c.1807G>A	ENSP00000364514.2:p.Gly603Arg
ENST00000396435.7:c.2422G>A	ENSP00000379712.3:p.Gly808Arg
NM_001111125.2:c.2422G>A	NP_001104595.1:p.Gly808Arg
NM_015075.1:c.1807G>A	NP_055890.1:p.Gly603Arg
XM_006724579.2:c.2518G>A	XP_006724642.1:p.Gly840Arg
XM_006724580.2:c.1807G>A	XP_006724643.1:p.Gly603Arg
XM_006724581.2:c.2518G>A	XP_006724644.1:p.Gly840Arg
XM_006724582.2:c.2518G>A	XP_006724645.1:p.Gly840Arg
XM_006724583.2:c.2518G>A	XP_006724646.1:p.Gly840Arg
XM_006724584.2:c.2518G>A	XP_006724647.1:p.Gly840Arg
XM_011530772.1:c.1744G>A	XP_011529074.1:p.Gly582Arg
XM_011530773.1:c.1711G>A	XP_011529075.1:p.Gly571Arg
XM_011530774.1:c.2518G>A	XP_011529076.1:p.Gly840Arg
XM_011530775.1:c.2518G>A	XP_011529077.1:p.Gly840Arg
XM_011530776.1:c.2518G>A	XP_011529078.1:p.Gly840Arg
XM_011530777.1:c.2518G>A	XP_011529079.1:p.Gly840Arg
XR_938365.1:n.2745G>A
XM_006724579.3:c.2518G>A	XP_006724642.1:p.Gly840Arg
XM_006724580.3:c.1807G>A	XP_006724643.1:p.Gly603Arg
XM_006724581.4:c.2518G>A	XP_006724644.1:p.Gly840Arg
XM_006724582.4:c.2518G>A	XP_006724645.1:p.Gly840Arg
XM_006724583.4:c.2518G>A	XP_006724646.1:p.Gly840Arg
XM_006724584.3:c.2518G>A	XP_006724647.1:p.Gly840Arg
XM_011530773.2:c.1711G>A	XP_011529075.1:p.Gly571Arg
XM_011530774.3:c.2518G>A	XP_011529076.1:p.Gly840Arg
XM_011530776.2:c.2518G>A	XP_011529078.1:p.Gly840Arg
XM_011530777.2:c.2518G>A	XP_011529079.1:p.Gly840Arg
XM_017029359.2:c.2392G>A	XP_016884848.1:p.Gly798Arg
XM_017029360.1:c.1924G>A	XP_016884849.1:p.Gly642Arg
XR_938365.2:n.2739G>A
NM_001111125.3:c.2422G>A MANE Select	NP_001104595.1:p.Gly808Arg
NM_015075.2:c.1807G>A	NP_055890.1:p.Gly603Arg