Canonical Allele Identifier: CA413158221

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 2092260
• ClinVar RCV Id: RCV003016021
• gnomAD v4: X-53248797-G-A
• COSMIC: COSM2968088 ; COSM2968089 ; COSM2968090
• MyVariant Identifiers: chrX:g.53277979G>A (hg19) ; chrX:g.53248797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53248797G>A , CM000685.2:g.53248797G>A	GRCh38
NC_000023.10:g.53277979G>A , CM000685.1:g.53277979G>A	GRCh37
NC_000023.9:g.53294704G>A	NCBI36
NG_021296.1:g.77544C>T
NG_021296.2:g.77554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2542C>T	ENSP00000516672.1:p.Arg848Trp
ENST00000638521.1:c.335C>T
ENST00000640694.1:c.2383C>T	ENSP00000492403.1:p.Arg795Trp
ENST00000642864.1:c.2383C>T MANE Select	ENSP00000495726.1:p.Arg795Trp
ENST00000674510.1:c.2383C>T	ENSP00000502054.1:p.Arg795Trp
ENST00000675719.1:c.2353C>T	ENSP00000501927.1:p.Arg785Trp
ENST00000375365.2:c.1768C>T	ENSP00000364514.2:p.Arg590Trp
ENST00000396435.7:c.2383C>T	ENSP00000379712.3:p.Arg795Trp
NM_001111125.2:c.2383C>T	NP_001104595.1:p.Arg795Trp
NM_015075.1:c.1768C>T	NP_055890.1:p.Arg590Trp
XM_006724579.2:c.2479C>T	XP_006724642.1:p.Arg827Trp
XM_006724580.2:c.1768C>T	XP_006724643.1:p.Arg590Trp
XM_006724581.2:c.2479C>T	XP_006724644.1:p.Arg827Trp
XM_006724582.2:c.2479C>T	XP_006724645.1:p.Arg827Trp
XM_006724583.2:c.2479C>T	XP_006724646.1:p.Arg827Trp
XM_006724584.2:c.2479C>T	XP_006724647.1:p.Arg827Trp
XM_011530772.1:c.1705C>T	XP_011529074.1:p.Arg569Trp
XM_011530773.1:c.1672C>T	XP_011529075.1:p.Arg558Trp
XM_011530774.1:c.2479C>T	XP_011529076.1:p.Arg827Trp
XM_011530775.1:c.2479C>T	XP_011529077.1:p.Arg827Trp
XM_011530776.1:c.2479C>T	XP_011529078.1:p.Arg827Trp
XM_011530777.1:c.2479C>T	XP_011529079.1:p.Arg827Trp
XR_938365.1:n.2706C>T
XM_006724579.3:c.2479C>T	XP_006724642.1:p.Arg827Trp
XM_006724580.3:c.1768C>T	XP_006724643.1:p.Arg590Trp
XM_006724581.4:c.2479C>T	XP_006724644.1:p.Arg827Trp
XM_006724582.4:c.2479C>T	XP_006724645.1:p.Arg827Trp
XM_006724583.4:c.2479C>T	XP_006724646.1:p.Arg827Trp
XM_006724584.3:c.2479C>T	XP_006724647.1:p.Arg827Trp
XM_011530773.2:c.1672C>T	XP_011529075.1:p.Arg558Trp
XM_011530774.3:c.2479C>T	XP_011529076.1:p.Arg827Trp
XM_011530776.2:c.2479C>T	XP_011529078.1:p.Arg827Trp
XM_011530777.2:c.2479C>T	XP_011529079.1:p.Arg827Trp
XM_017029359.2:c.2353C>T	XP_016884848.1:p.Arg785Trp
XM_017029360.1:c.1885C>T	XP_016884849.1:p.Arg629Trp
XR_938365.2:n.2700C>T
NM_001111125.3:c.2383C>T MANE Select	NP_001104595.1:p.Arg795Trp
NM_015075.2:c.1768C>T	NP_055890.1:p.Arg590Trp