Canonical Allele Identifier: CA1139667567

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 871791
• ClinVar RCV Id: RCV001091937
• dbSNP Id: rs2074372905

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53250695_53250696del , CM000685.2:g.53250695_53250696del	GRCh38
NC_000023.10:g.53279877_53279878del , CM000685.1:g.53279877_53279878del	GRCh37
NC_000023.9:g.53296602_53296603del	NCBI36
NG_021296.1:g.75645_75646del
NG_021296.2:g.75655_75656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2039_2040del	ENSP00000516672.1:p.Ser680ThrfsTer25
ENST00000640694.1:c.1880_1881del	ENSP00000492403.1:p.Ser627ThrfsTer25
ENST00000642864.1:c.1880_1881del MANE Select	ENSP00000495726.1:p.Ser627ThrfsTer25
ENST00000674510.1:c.1880_1881del	ENSP00000502054.1:p.Ser627ThrfsTer25
ENST00000675719.1:c.1850_1851del	ENSP00000501927.1:p.Ser617ThrfsTer25
ENST00000375365.2:c.1265_1266del	ENSP00000364514.2:p.Ser422ThrfsTer25
ENST00000396435.7:c.1880_1881del	ENSP00000379712.3:p.Ser627ThrfsTer25
NM_001111125.2:c.1880_1881del	NP_001104595.1:p.Ser627ThrfsTer25
NM_015075.1:c.1265_1266del	NP_055890.1:p.Ser422ThrfsTer25
XM_006724579.2:c.1976_1977del	XP_006724642.1:p.Ser659ThrfsTer25
XM_006724580.2:c.1265_1266del	XP_006724643.1:p.Ser422ThrfsTer25
XM_006724581.2:c.1976_1977del	XP_006724644.1:p.Ser659ThrfsTer25
XM_006724582.2:c.1976_1977del	XP_006724645.1:p.Ser659ThrfsTer25
XM_006724583.2:c.1976_1977del	XP_006724646.1:p.Ser659ThrfsTer25
XM_006724584.2:c.1976_1977del	XP_006724647.1:p.Ser659ThrfsTer25
XM_011530772.1:c.1202_1203del	XP_011529074.1:p.Ser401ThrfsTer25
XM_011530773.1:c.1169_1170del	XP_011529075.1:p.Ser390ThrfsTer25
XM_011530774.1:c.1976_1977del	XP_011529076.1:p.Ser659ThrfsTer25
XM_011530775.1:c.1976_1977del	XP_011529077.1:p.Ser659ThrfsTer25
XM_011530776.1:c.1976_1977del	XP_011529078.1:p.Ser659ThrfsTer25
XM_011530777.1:c.1976_1977del	XP_011529079.1:p.Ser659ThrfsTer25
XR_938365.1:n.2203_2204del
XM_006724579.3:c.1976_1977del	XP_006724642.1:p.Ser659ThrfsTer25
XM_006724580.3:c.1265_1266del	XP_006724643.1:p.Ser422ThrfsTer25
XM_006724581.4:c.1976_1977del	XP_006724644.1:p.Ser659ThrfsTer25
XM_006724582.4:c.1976_1977del	XP_006724645.1:p.Ser659ThrfsTer25
XM_006724583.4:c.1976_1977del	XP_006724646.1:p.Ser659ThrfsTer25
XM_006724584.3:c.1976_1977del	XP_006724647.1:p.Ser659ThrfsTer25
XM_011530773.2:c.1169_1170del	XP_011529075.1:p.Ser390ThrfsTer25
XM_011530774.3:c.1976_1977del	XP_011529076.1:p.Ser659ThrfsTer25
XM_011530776.2:c.1976_1977del	XP_011529078.1:p.Ser659ThrfsTer25
XM_011530777.2:c.1976_1977del	XP_011529079.1:p.Ser659ThrfsTer25
XM_017029359.2:c.1850_1851del	XP_016884848.1:p.Ser617ThrfsTer25
XM_017029360.1:c.1382_1383del	XP_016884849.1:p.Ser461ThrfsTer25
XR_938365.2:n.2197_2198del
NM_001111125.3:c.1880_1881del MANE Select	NP_001104595.1:p.Ser627ThrfsTer25
NM_015075.2:c.1265_1266del	NP_055890.1:p.Ser422ThrfsTer25