Canonical Allele Identifier: CA2499226779

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1069101
• ClinVar RCV Id: RCV001380850
• dbSNP Id: rs2147003883

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53234897_53235077del , CM000685.2:g.53234897_53235077del	GRCh38
NC_000023.10:g.53264079_53264259del , CM000685.1:g.53264079_53264259del	GRCh37
NC_000023.9:g.53280804_53280984del	NCBI36
NG_021296.1:g.91266_91446del
NG_021296.2:g.91276_91456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3770_3950del	ENSP00000516672.1:p.Phe1257SerfsTer?
ENST00000638521.1:c.1453+708_1453+888del
ENST00000638869.1:c.962+708_962+888del
ENST00000639796.1:c.316+1247_316+1427del	ENSP00000492252.1:n.316+1247_316+1427del
ENST00000640005.1:c.514+1247_514+1427del	ENSP00000491293.1:n.514+1247_514+1427del
ENST00000640694.1:c.*96_*276del	ENSP00000492403.1:n.*96_*276del
ENST00000642864.1:c.3611_3791del MANE Select	ENSP00000495726.1:p.Phe1204SerfsTer?
ENST00000674510.1:c.3611_3791del	ENSP00000502054.1:p.Phe1204SerfsTer?
ENST00000675719.1:c.3581_3761del	ENSP00000501927.1:p.Phe1194SerfsTer?
ENST00000375365.2:c.*96_*276del	ENSP00000364514.2:n.*96_*276del
ENST00000396435.7:c.3611_3791del	ENSP00000379712.3:p.Phe1204SerfsTer?
NM_001111125.2:c.3611_3791del	NP_001104595.1:p.Phe1204SerfsTer?
NM_015075.1:c.*96_*276del	NP_055890.1:n.*96_*276del
XM_006724579.2:c.3707_3887del	XP_006724642.1:p.Phe1236SerfsTer?
XM_006724580.2:c.2996_3176del	XP_006724643.1:p.Phe999SerfsTer?
XM_006724581.2:c.3597+708_3597+888del	XP_006724644.1:n.3597+708_3597+888del
XM_006724582.2:c.3597+708_3597+888del	XP_006724645.1:n.3597+708_3597+888del
XM_006724583.2:c.3547+1247_3547+1427del	XP_006724646.1:n.3547+1247_3547+1427del
XM_006724584.2:c.*96_*276del	XP_006724647.1:n.*96_*276del
XM_011530772.1:c.2933_3113del	XP_011529074.1:p.Phe978SerfsTer?
XM_011530773.1:c.2900_3080del	XP_011529075.1:p.Phe967SerfsTer?
XM_011530775.1:c.3547+1247_3547+1427del	XP_011529077.1:n.3547+1247_3547+1427del
XM_006724579.3:c.3707_3887del	XP_006724642.1:p.Phe1236SerfsTer?
XM_006724580.3:c.2996_3176del	XP_006724643.1:p.Phe999SerfsTer?
XM_006724581.4:c.3597+708_3597+888del	XP_006724644.1:n.3597+708_3597+888del
XM_006724582.4:c.3597+708_3597+888del	XP_006724645.1:n.3597+708_3597+888del
XM_006724583.4:c.3547+1247_3547+1427del	XP_006724646.1:n.3547+1247_3547+1427del
XM_006724584.3:c.*96_*276del	XP_006724647.1:n.*96_*276del
XM_011530773.2:c.2900_3080del	XP_011529075.1:p.Phe967SerfsTer?
XM_017029359.2:c.3581_3761del	XP_016884848.1:p.Phe1194SerfsTer?
XM_017029360.1:c.3113_3293del	XP_016884849.1:p.Phe1038SerfsTer?
NM_001111125.3:c.3611_3791del MANE Select	NP_001104595.1:p.Phe1204SerfsTer?
NM_015075.2:c.*96_*276del	NP_055890.1:n.*96_*276del