Canonical Allele Identifier: CA10420135

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 573936
• ClinVar RCV Id: RCV000695740 ; RCV003332234
• dbSNP Id: rs782660318
• ExAC: X:53285132 GC / G
• gnomAD v4: X-53255950-GC-G
• COSMIC: COSM1468544 ; COSM1468545 ; COSM4611501
• MyVariant Identifiers: chrX:g.53285133del (hg19) ; chrX:g.53255951del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53255956del , CM000685.2:g.53255956del	GRCh38
NC_000023.10:g.53285138del , CM000685.1:g.53285138del	GRCh37
NC_000023.9:g.53301863del	NCBI36
NG_021296.1:g.70390del
NG_021296.2:g.70400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.1007del	ENSP00000516672.1:p.Gly336AlafsTer23
ENST00000638630.1:c.137del	ENSP00000492390.1:p.Gly46AlafsTer23
ENST00000640694.1:c.848del	ENSP00000492403.1:p.Gly283AlafsTer23
ENST00000642864.1:c.848del MANE Select	ENSP00000495726.1:p.Gly283AlafsTer23
ENST00000674510.1:c.848del	ENSP00000502054.1:p.Gly283AlafsTer23
ENST00000675719.1:c.818del	ENSP00000501927.1:p.Gly273AlafsTer23
ENST00000375365.2:c.233del	ENSP00000364514.2:p.Gly78AlafsTer23
ENST00000396435.7:c.848del	ENSP00000379712.3:p.Gly283AlafsTer23
NM_001111125.2:c.848del	NP_001104595.1:p.Gly283AlafsTer23
NM_015075.1:c.233del	NP_055890.1:p.Gly78AlafsTer23
XM_006724579.2:c.944del	XP_006724642.1:p.Gly315AlafsTer23
XM_006724580.2:c.233del	XP_006724643.1:p.Gly78AlafsTer23
XM_006724581.2:c.944del	XP_006724644.1:p.Gly315AlafsTer23
XM_006724582.2:c.944del	XP_006724645.1:p.Gly315AlafsTer23
XM_006724583.2:c.944del	XP_006724646.1:p.Gly315AlafsTer23
XM_006724584.2:c.944del	XP_006724647.1:p.Gly315AlafsTer23
XM_011530772.1:c.170del	XP_011529074.1:p.Gly57AlafsTer23
XM_011530773.1:c.137del	XP_011529075.1:p.Gly46AlafsTer23
XM_011530774.1:c.944del	XP_011529076.1:p.Gly315AlafsTer23
XM_011530775.1:c.944del	XP_011529077.1:p.Gly315AlafsTer23
XM_011530776.1:c.944del	XP_011529078.1:p.Gly315AlafsTer23
XM_011530777.1:c.944del	XP_011529079.1:p.Gly315AlafsTer23
XR_938365.1:n.1171del
XM_006724579.3:c.944del	XP_006724642.1:p.Gly315AlafsTer23
XM_006724580.3:c.233del	XP_006724643.1:p.Gly78AlafsTer23
XM_006724581.4:c.944del	XP_006724644.1:p.Gly315AlafsTer23
XM_006724582.4:c.944del	XP_006724645.1:p.Gly315AlafsTer23
XM_006724583.4:c.944del	XP_006724646.1:p.Gly315AlafsTer23
XM_006724584.3:c.944del	XP_006724647.1:p.Gly315AlafsTer23
XM_011530773.2:c.137del	XP_011529075.1:p.Gly46AlafsTer23
XM_011530774.3:c.944del	XP_011529076.1:p.Gly315AlafsTer23
XM_011530776.2:c.944del	XP_011529078.1:p.Gly315AlafsTer23
XM_011530777.2:c.944del	XP_011529079.1:p.Gly315AlafsTer23
XM_017029359.2:c.818del	XP_016884848.1:p.Gly273AlafsTer23
XM_017029360.1:c.350del	XP_016884849.1:p.Gly117AlafsTer23
XR_938365.2:n.1165del
NM_001111125.3:c.848del MANE Select	NP_001104595.1:p.Gly283AlafsTer23
NM_015075.2:c.233del	NP_055890.1:p.Gly78AlafsTer23