Canonical Allele Identifier: CA2697553116

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 2768008
• ClinVar RCV Id: RCV003510335

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53248831_53248832del , CM000685.2:g.53248831_53248832del	GRCh38
NC_000023.10:g.53278013_53278014del , CM000685.1:g.53278013_53278014del	GRCh37
NC_000023.9:g.53294738_53294739del	NCBI36
NG_021296.1:g.77513_77514del
NG_021296.2:g.77523_77524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2511_2512del	ENSP00000516672.1:p.Pro838GlyfsTer?
ENST00000638521.1:c.304_305del
ENST00000640694.1:c.2352_2353del	ENSP00000492403.1:p.Pro785GlyfsTer?
ENST00000642864.1:c.2352_2353del MANE Select	ENSP00000495726.1:p.Pro785GlyfsTer?
ENST00000674510.1:c.2352_2353del	ENSP00000502054.1:p.Pro785GlyfsTer?
ENST00000675719.1:c.2322_2323del	ENSP00000501927.1:p.Pro775GlyfsTer?
ENST00000375365.2:c.1737_1738del	ENSP00000364514.2:p.Pro580GlyfsTer?
ENST00000396435.7:c.2352_2353del	ENSP00000379712.3:p.Pro785GlyfsTer?
NM_001111125.2:c.2352_2353del	NP_001104595.1:p.Pro785GlyfsTer?
NM_015075.1:c.1737_1738del	NP_055890.1:p.Pro580GlyfsTer?
XM_006724579.2:c.2448_2449del	XP_006724642.1:p.Pro817GlyfsTer?
XM_006724580.2:c.1737_1738del	XP_006724643.1:p.Pro580GlyfsTer?
XM_006724581.2:c.2448_2449del	XP_006724644.1:p.Pro817GlyfsTer?
XM_006724582.2:c.2448_2449del	XP_006724645.1:p.Pro817GlyfsTer?
XM_006724583.2:c.2448_2449del	XP_006724646.1:p.Pro817GlyfsTer?
XM_006724584.2:c.2448_2449del	XP_006724647.1:p.Pro817GlyfsTer?
XM_011530772.1:c.1674_1675del	XP_011529074.1:p.Pro559GlyfsTer?
XM_011530773.1:c.1641_1642del	XP_011529075.1:p.Pro548GlyfsTer?
XM_011530774.1:c.2448_2449del	XP_011529076.1:p.Pro817GlyfsTer?
XM_011530775.1:c.2448_2449del	XP_011529077.1:p.Pro817GlyfsTer?
XM_011530776.1:c.2448_2449del	XP_011529078.1:p.Pro817GlyfsTer?
XM_011530777.1:c.2448_2449del	XP_011529079.1:p.Pro817GlyfsTer?
XR_938365.1:n.2675_2676del
XM_006724579.3:c.2448_2449del	XP_006724642.1:p.Pro817GlyfsTer?
XM_006724580.3:c.1737_1738del	XP_006724643.1:p.Pro580GlyfsTer?
XM_006724581.4:c.2448_2449del	XP_006724644.1:p.Pro817GlyfsTer?
XM_006724582.4:c.2448_2449del	XP_006724645.1:p.Pro817GlyfsTer?
XM_006724583.4:c.2448_2449del	XP_006724646.1:p.Pro817GlyfsTer?
XM_006724584.3:c.2448_2449del	XP_006724647.1:p.Pro817GlyfsTer?
XM_011530773.2:c.1641_1642del	XP_011529075.1:p.Pro548GlyfsTer?
XM_011530774.3:c.2448_2449del	XP_011529076.1:p.Pro817GlyfsTer?
XM_011530776.2:c.2448_2449del	XP_011529078.1:p.Pro817GlyfsTer?
XM_011530777.2:c.2448_2449del	XP_011529079.1:p.Pro817GlyfsTer?
XM_017029359.2:c.2322_2323del	XP_016884848.1:p.Pro775GlyfsTer?
XM_017029360.1:c.1854_1855del	XP_016884849.1:p.Pro619GlyfsTer?
XR_938365.2:n.2669_2670del
NM_001111125.3:c.2352_2353del MANE Select	NP_001104595.1:p.Pro785GlyfsTer?
NM_015075.2:c.1737_1738del	NP_055890.1:p.Pro580GlyfsTer?