Canonical Allele Identifier: CA1139667575

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 930554
• ClinVar RCV Id: RCV001196313
• dbSNP Id: rs2074458024

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53255843del , CM000685.2:g.53255843del	GRCh38
NC_000023.10:g.53285025del , CM000685.1:g.53285025del	GRCh37
NC_000023.9:g.53301750del	NCBI36
NG_021296.1:g.70498del
NG_021296.2:g.70508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.1115del	ENSP00000516672.1:p.Leu372HisfsTer28
ENST00000638630.1:c.245del	ENSP00000492390.1:p.Leu82HisfsTer28
ENST00000640694.1:c.956del	ENSP00000492403.1:p.Leu319HisfsTer28
ENST00000642864.1:c.956del MANE Select	ENSP00000495726.1:p.Leu319HisfsTer28
ENST00000674510.1:c.956del	ENSP00000502054.1:p.Leu319HisfsTer28
ENST00000675719.1:c.926del	ENSP00000501927.1:p.Leu309HisfsTer28
ENST00000375365.2:c.341del	ENSP00000364514.2:p.Leu114HisfsTer28
ENST00000396435.7:c.956del	ENSP00000379712.3:p.Leu319HisfsTer28
NM_001111125.2:c.956del	NP_001104595.1:p.Leu319HisfsTer28
NM_015075.1:c.341del	NP_055890.1:p.Leu114HisfsTer28
XM_006724579.2:c.1052del	XP_006724642.1:p.Leu351HisfsTer28
XM_006724580.2:c.341del	XP_006724643.1:p.Leu114HisfsTer28
XM_006724581.2:c.1052del	XP_006724644.1:p.Leu351HisfsTer28
XM_006724582.2:c.1052del	XP_006724645.1:p.Leu351HisfsTer28
XM_006724583.2:c.1052del	XP_006724646.1:p.Leu351HisfsTer28
XM_006724584.2:c.1052del	XP_006724647.1:p.Leu351HisfsTer28
XM_011530772.1:c.278del	XP_011529074.1:p.Leu93HisfsTer28
XM_011530773.1:c.245del	XP_011529075.1:p.Leu82HisfsTer28
XM_011530774.1:c.1052del	XP_011529076.1:p.Leu351HisfsTer28
XM_011530775.1:c.1052del	XP_011529077.1:p.Leu351HisfsTer28
XM_011530776.1:c.1052del	XP_011529078.1:p.Leu351HisfsTer28
XM_011530777.1:c.1052del	XP_011529079.1:p.Leu351HisfsTer28
XR_938365.1:n.1279del
XM_006724579.3:c.1052del	XP_006724642.1:p.Leu351HisfsTer28
XM_006724580.3:c.341del	XP_006724643.1:p.Leu114HisfsTer28
XM_006724581.4:c.1052del	XP_006724644.1:p.Leu351HisfsTer28
XM_006724582.4:c.1052del	XP_006724645.1:p.Leu351HisfsTer28
XM_006724583.4:c.1052del	XP_006724646.1:p.Leu351HisfsTer28
XM_006724584.3:c.1052del	XP_006724647.1:p.Leu351HisfsTer28
XM_011530773.2:c.245del	XP_011529075.1:p.Leu82HisfsTer28
XM_011530774.3:c.1052del	XP_011529076.1:p.Leu351HisfsTer28
XM_011530776.2:c.1052del	XP_011529078.1:p.Leu351HisfsTer28
XM_011530777.2:c.1052del	XP_011529079.1:p.Leu351HisfsTer28
XM_017029359.2:c.926del	XP_016884848.1:p.Leu309HisfsTer28
XM_017029360.1:c.458del	XP_016884849.1:p.Leu153HisfsTer28
XR_938365.2:n.1273del
NM_001111125.3:c.956del MANE Select	NP_001104595.1:p.Leu319HisfsTer28
NM_015075.2:c.341del	NP_055890.1:p.Leu114HisfsTer28