Canonical Allele Identifier: CA413172066

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 816874
• ClinVar RCV Id: RCV001007874
• dbSNP Id: rs1602293814
• gnomAD v4: X-53255991-G-A
• MyVariant Identifiers: chrX:g.53285173G>A (hg19) ; chrX:g.53255991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53255991G>A , CM000685.2:g.53255991G>A	GRCh38
NC_000023.10:g.53285173G>A , CM000685.1:g.53285173G>A	GRCh37
NC_000023.9:g.53301898G>A	NCBI36
NG_021296.1:g.70350C>T
NG_021296.2:g.70360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.967C>T	ENSP00000516672.1:p.Arg323Trp
ENST00000638630.1:c.97C>T	ENSP00000492390.1:p.Arg33Trp
ENST00000640694.1:c.808C>T	ENSP00000492403.1:p.Arg270Trp
ENST00000642864.1:c.808C>T MANE Select	ENSP00000495726.1:p.Arg270Trp
ENST00000674510.1:c.808C>T	ENSP00000502054.1:p.Arg270Trp
ENST00000675719.1:c.778C>T	ENSP00000501927.1:p.Arg260Trp
ENST00000375365.2:c.193C>T	ENSP00000364514.2:p.Arg65Trp
ENST00000396435.7:c.808C>T	ENSP00000379712.3:p.Arg270Trp
NM_001111125.2:c.808C>T	NP_001104595.1:p.Arg270Trp
NM_015075.1:c.193C>T	NP_055890.1:p.Arg65Trp
XM_006724579.2:c.904C>T	XP_006724642.1:p.Arg302Trp
XM_006724580.2:c.193C>T	XP_006724643.1:p.Arg65Trp
XM_006724581.2:c.904C>T	XP_006724644.1:p.Arg302Trp
XM_006724582.2:c.904C>T	XP_006724645.1:p.Arg302Trp
XM_006724583.2:c.904C>T	XP_006724646.1:p.Arg302Trp
XM_006724584.2:c.904C>T	XP_006724647.1:p.Arg302Trp
XM_011530772.1:c.130C>T	XP_011529074.1:p.Arg44Trp
XM_011530773.1:c.97C>T	XP_011529075.1:p.Arg33Trp
XM_011530774.1:c.904C>T	XP_011529076.1:p.Arg302Trp
XM_011530775.1:c.904C>T	XP_011529077.1:p.Arg302Trp
XM_011530776.1:c.904C>T	XP_011529078.1:p.Arg302Trp
XM_011530777.1:c.904C>T	XP_011529079.1:p.Arg302Trp
XR_938365.1:n.1131C>T
XM_006724579.3:c.904C>T	XP_006724642.1:p.Arg302Trp
XM_006724580.3:c.193C>T	XP_006724643.1:p.Arg65Trp
XM_006724581.4:c.904C>T	XP_006724644.1:p.Arg302Trp
XM_006724582.4:c.904C>T	XP_006724645.1:p.Arg302Trp
XM_006724583.4:c.904C>T	XP_006724646.1:p.Arg302Trp
XM_006724584.3:c.904C>T	XP_006724647.1:p.Arg302Trp
XM_011530773.2:c.97C>T	XP_011529075.1:p.Arg33Trp
XM_011530774.3:c.904C>T	XP_011529076.1:p.Arg302Trp
XM_011530776.2:c.904C>T	XP_011529078.1:p.Arg302Trp
XM_011530777.2:c.904C>T	XP_011529079.1:p.Arg302Trp
XM_017029359.2:c.778C>T	XP_016884848.1:p.Arg260Trp
XM_017029360.1:c.310C>T	XP_016884849.1:p.Arg104Trp
XR_938365.2:n.1125C>T
NM_001111125.3:c.808C>T MANE Select	NP_001104595.1:p.Arg270Trp
NM_015075.2:c.193C>T	NP_055890.1:p.Arg65Trp