Canonical Allele Identifier: CA10420132

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 619985
• ClinVar RCV Id: RCV000760185 ; RCV002225723
• dbSNP Id: rs782460038
• ExAC: X:53285126 AG / A
• gnomAD v2: X-53285126-AG-A
• gnomAD v4: X-53255944-AG-A
• COSMIC: COSM2968153 ; COSM2968154 ; COSM2968155
• MyVariant Identifiers: chrX:g.53285127del (hg19) ; chrX:g.53255945del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53255950del , CM000685.2:g.53255950del	GRCh38
NC_000023.10:g.53285132del , CM000685.1:g.53285132del	GRCh37
NC_000023.9:g.53301857del	NCBI36
NG_021296.1:g.70396del
NG_021296.2:g.70406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.1013del	ENSP00000516672.1:p.Pro338LeufsTer21
ENST00000638630.1:c.143del	ENSP00000492390.1:p.Pro48LeufsTer21
ENST00000640694.1:c.854del	ENSP00000492403.1:p.Pro285LeufsTer21
ENST00000642864.1:c.854del MANE Select	ENSP00000495726.1:p.Pro285LeufsTer21
ENST00000674510.1:c.854del	ENSP00000502054.1:p.Pro285LeufsTer21
ENST00000675719.1:c.824del	ENSP00000501927.1:p.Pro275LeufsTer21
ENST00000375365.2:c.239del	ENSP00000364514.2:p.Pro80LeufsTer21
ENST00000396435.7:c.854del	ENSP00000379712.3:p.Pro285LeufsTer21
NM_001111125.2:c.854del	NP_001104595.1:p.Pro285LeufsTer21
NM_015075.1:c.239del	NP_055890.1:p.Pro80LeufsTer21
XM_006724579.2:c.950del	XP_006724642.1:p.Pro317LeufsTer21
XM_006724580.2:c.239del	XP_006724643.1:p.Pro80LeufsTer21
XM_006724581.2:c.950del	XP_006724644.1:p.Pro317LeufsTer21
XM_006724582.2:c.950del	XP_006724645.1:p.Pro317LeufsTer21
XM_006724583.2:c.950del	XP_006724646.1:p.Pro317LeufsTer21
XM_006724584.2:c.950del	XP_006724647.1:p.Pro317LeufsTer21
XM_011530772.1:c.176del	XP_011529074.1:p.Pro59LeufsTer21
XM_011530773.1:c.143del	XP_011529075.1:p.Pro48LeufsTer21
XM_011530774.1:c.950del	XP_011529076.1:p.Pro317LeufsTer21
XM_011530775.1:c.950del	XP_011529077.1:p.Pro317LeufsTer21
XM_011530776.1:c.950del	XP_011529078.1:p.Pro317LeufsTer21
XM_011530777.1:c.950del	XP_011529079.1:p.Pro317LeufsTer21
XR_938365.1:n.1177del
XM_006724579.3:c.950del	XP_006724642.1:p.Pro317LeufsTer21
XM_006724580.3:c.239del	XP_006724643.1:p.Pro80LeufsTer21
XM_006724581.4:c.950del	XP_006724644.1:p.Pro317LeufsTer21
XM_006724582.4:c.950del	XP_006724645.1:p.Pro317LeufsTer21
XM_006724583.4:c.950del	XP_006724646.1:p.Pro317LeufsTer21
XM_006724584.3:c.950del	XP_006724647.1:p.Pro317LeufsTer21
XM_011530773.2:c.143del	XP_011529075.1:p.Pro48LeufsTer21
XM_011530774.3:c.950del	XP_011529076.1:p.Pro317LeufsTer21
XM_011530776.2:c.950del	XP_011529078.1:p.Pro317LeufsTer21
XM_011530777.2:c.950del	XP_011529079.1:p.Pro317LeufsTer21
XM_017029359.2:c.824del	XP_016884848.1:p.Pro275LeufsTer21
XM_017029360.1:c.356del	XP_016884849.1:p.Pro119LeufsTer21
XR_938365.2:n.1171del
NM_001111125.3:c.854del MANE Select	NP_001104595.1:p.Pro285LeufsTer21
NM_015075.2:c.239del	NP_055890.1:p.Pro80LeufsTer21