Canonical Allele Identifier: CA913191241

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 623140
• ClinVar RCV Id: RCV000761242
• dbSNP Id: rs1569291627

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53234815del , CM000685.2:g.53234815del	GRCh38
NC_000023.10:g.53263997del , CM000685.1:g.53263997del	GRCh37
NC_000023.9:g.53280722del	NCBI36
NG_021296.1:g.91530del
NG_021296.2:g.91540del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.4034del	ENSP00000516672.1:p.Pro1345HisfsTer?
ENST00000638521.1:c.1453+972del
ENST00000638869.1:c.962+972del
ENST00000639796.1:c.316+1511del	ENSP00000492252.1:n.316+1511del
ENST00000640005.1:c.514+1511del	ENSP00000491293.1:n.514+1511del
ENST00000640694.1:c.*360del	ENSP00000492403.1:n.*360del
ENST00000642864.1:c.3875del MANE Select	ENSP00000495726.1:p.Pro1292HisfsTer?
ENST00000674510.1:c.3875del	ENSP00000502054.1:p.Pro1292HisfsTer?
ENST00000675719.1:c.3845del	ENSP00000501927.1:p.Pro1282HisfsTer?
ENST00000375365.2:c.*360del	ENSP00000364514.2:n.*360del
ENST00000396435.7:c.3875del	ENSP00000379712.3:p.Pro1292HisfsTer?
NM_001111125.2:c.3875del	NP_001104595.1:p.Pro1292HisfsTer?
NM_015075.1:c.*360del	NP_055890.1:n.*360del
XM_006724579.2:c.3971del	XP_006724642.1:p.Pro1324HisfsTer?
XM_006724580.2:c.3260del	XP_006724643.1:p.Pro1087HisfsTer?
XM_006724581.2:c.3597+972del	XP_006724644.1:n.3597+972del
XM_006724582.2:c.3597+972del	XP_006724645.1:n.3597+972del
XM_006724583.2:c.3547+1511del	XP_006724646.1:n.3547+1511del
XM_006724584.2:c.*360del	XP_006724647.1:n.*360del
XM_011530772.1:c.3197del	XP_011529074.1:p.Pro1066HisfsTer?
XM_011530773.1:c.3164del	XP_011529075.1:p.Pro1055HisfsTer?
XM_011530775.1:c.3547+1511del	XP_011529077.1:n.3547+1511del
XM_006724579.3:c.3971del	XP_006724642.1:p.Pro1324HisfsTer?
XM_006724580.3:c.3260del	XP_006724643.1:p.Pro1087HisfsTer?
XM_006724581.4:c.3597+972del	XP_006724644.1:n.3597+972del
XM_006724582.4:c.3597+972del	XP_006724645.1:n.3597+972del
XM_006724583.4:c.3547+1511del	XP_006724646.1:n.3547+1511del
XM_006724584.3:c.*360del	XP_006724647.1:n.*360del
XM_011530773.2:c.3164del	XP_011529075.1:p.Pro1055HisfsTer?
XM_017029359.2:c.3845del	XP_016884848.1:p.Pro1282HisfsTer?
XM_017029360.1:c.3377del	XP_016884849.1:p.Pro1126HisfsTer?
NM_001111125.3:c.3875del MANE Select	NP_001104595.1:p.Pro1292HisfsTer?
NM_015075.2:c.*360del	NP_055890.1:n.*360del