Canonical Allele Identifier: CA2499226780

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1218675
• ClinVar RCV Id: RCV001593871
• dbSNP Id: rs2147006430

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235171dup , CM000685.2:g.53235171dup	GRCh38
NC_000023.10:g.53264353dup , CM000685.1:g.53264353dup	GRCh37
NC_000023.9:g.53281078dup	NCBI36
NG_021296.1:g.91170dup
NG_021296.2:g.91180dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3674dup	ENSP00000516672.1:p.Ser1225ArgfsTer?
ENST00000638521.1:c.1453+612dup
ENST00000638869.1:c.962+612dup
ENST00000639796.1:c.316+1151dup	ENSP00000492252.1:n.316+1151dup
ENST00000640005.1:c.514+1151dup	ENSP00000491293.1:n.514+1151dup
ENST00000640436.1:n.495dup
ENST00000640694.1:c.3465dup	ENSP00000492403.1:n.3465dup
ENST00000642864.1:c.3515dup MANE Select	ENSP00000495726.1:p.Ser1172ArgfsTer?
ENST00000674510.1:c.3515dup	ENSP00000502054.1:p.Ser1172ArgfsTer?
ENST00000675719.1:c.3485dup	ENSP00000501927.1:p.Ser1162ArgfsTer?
ENST00000375365.2:c.2850dup	ENSP00000364514.2:n.2850dup
ENST00000396435.7:c.3515dup	ENSP00000379712.3:p.Ser1172ArgfsTer?
NM_001111125.2:c.3515dup	NP_001104595.1:p.Ser1172ArgfsTer?
NM_015075.1:c.2850dup	NP_055890.1:n.2850dup
XM_006724579.2:c.3611dup	XP_006724642.1:p.Ser1204ArgfsTer?
XM_006724580.2:c.2900dup	XP_006724643.1:p.Ser967ArgfsTer?
XM_006724581.2:c.3597+612dup	XP_006724644.1:n.3597+612dup
XM_006724582.2:c.3597+612dup	XP_006724645.1:n.3597+612dup
XM_006724583.2:c.3547+1151dup	XP_006724646.1:n.3547+1151dup
XM_006724584.2:c.3561dup	XP_006724647.1:n.3561dup
XM_011530772.1:c.2837dup	XP_011529074.1:p.Ser946ArgfsTer?
XM_011530773.1:c.2804dup	XP_011529075.1:p.Ser935ArgfsTer?
XM_011530775.1:c.3547+1151dup	XP_011529077.1:n.3547+1151dup
XM_006724579.3:c.3611dup	XP_006724642.1:p.Ser1204ArgfsTer?
XM_006724580.3:c.2900dup	XP_006724643.1:p.Ser967ArgfsTer?
XM_006724581.4:c.3597+612dup	XP_006724644.1:n.3597+612dup
XM_006724582.4:c.3597+612dup	XP_006724645.1:n.3597+612dup
XM_006724583.4:c.3547+1151dup	XP_006724646.1:n.3547+1151dup
XM_006724584.3:c.3561dup	XP_006724647.1:n.3561dup
XM_011530773.2:c.2804dup	XP_011529075.1:p.Ser935ArgfsTer?
XM_017029359.2:c.3485dup	XP_016884848.1:p.Ser1162ArgfsTer?
XM_017029360.1:c.3017dup	XP_016884849.1:p.Ser1006ArgfsTer?
NM_001111125.3:c.3515dup MANE Select	NP_001104595.1:p.Ser1172ArgfsTer?
NM_015075.2:c.2850dup	NP_055890.1:n.2850dup