Canonical Allele Identifier: CA658658987

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 471275
• ClinVar RCV Id: RCV000547957
• dbSNP Id: rs1556858912
• MyVariant Identifiers: chrX:g.53263430_53263434dup (hg19) ; chrX:g.53234248_53234252dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53234249_53234253dup , CM000685.2:g.53234249_53234253dup	GRCh38
NC_000023.10:g.53263431_53263435dup , CM000685.1:g.53263431_53263435dup	GRCh37
NC_000023.9:g.53280156_53280160dup	NCBI36
NG_021296.1:g.92089_92093dup
NG_021296.2:g.92099_92103dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.4593_4597dup	ENSP00000516672.1:p.Lys1533ArgfsTer17
ENST00000638521.1:c.1453+1531_1453+1535dup
ENST00000638869.1:c.962+1531_962+1535dup
ENST00000639796.1:c.316+2070_316+2074dup	ENSP00000492252.1:n.316+2070_316+2074dup
ENST00000640005.1:c.514+2070_514+2074dup	ENSP00000491293.1:n.514+2070_514+2074dup
ENST00000640694.1:c.*919_*923dup	ENSP00000492403.1:n.*919_*923dup
ENST00000642864.1:c.4434_4438dup MANE Select	ENSP00000495726.1:p.Lys1480ArgfsTer17
ENST00000674510.1:c.4434_4438dup	ENSP00000502054.1:p.Lys1480ArgfsTer17
ENST00000675719.1:c.4404_4408dup	ENSP00000501927.1:p.Lys1470ArgfsTer17
ENST00000375365.2:c.*919_*923dup	ENSP00000364514.2:n.*919_*923dup
ENST00000396435.7:c.4434_4438dup	ENSP00000379712.3:p.Lys1480ArgfsTer17
NM_001111125.2:c.4434_4438dup	NP_001104595.1:p.Lys1480ArgfsTer17
NM_015075.1:c.*919_*923dup	NP_055890.1:n.*919_*923dup
XM_006724579.2:c.4530_4534dup	XP_006724642.1:p.Lys1512ArgfsTer17
XM_006724580.2:c.3819_3823dup	XP_006724643.1:p.Lys1275ArgfsTer17
XM_006724581.2:c.3597+1531_3597+1535dup	XP_006724644.1:n.3597+1531_3597+1535dup
XM_006724582.2:c.3597+1531_3597+1535dup	XP_006724645.1:n.3597+1531_3597+1535dup
XM_006724583.2:c.3547+2070_3547+2074dup	XP_006724646.1:n.3547+2070_3547+2074dup
XM_011530772.1:c.3756_3760dup	XP_011529074.1:p.Lys1254ArgfsTer17
XM_011530773.1:c.3723_3727dup	XP_011529075.1:p.Lys1243ArgfsTer17
XM_011530775.1:c.3547+2070_3547+2074dup	XP_011529077.1:n.3547+2070_3547+2074dup
XM_006724579.3:c.4530_4534dup	XP_006724642.1:p.Lys1512ArgfsTer17
XM_006724580.3:c.3819_3823dup	XP_006724643.1:p.Lys1275ArgfsTer17
XM_006724581.4:c.3597+1531_3597+1535dup	XP_006724644.1:n.3597+1531_3597+1535dup
XM_006724582.4:c.3597+1531_3597+1535dup	XP_006724645.1:n.3597+1531_3597+1535dup
XM_006724583.4:c.3547+2070_3547+2074dup	XP_006724646.1:n.3547+2070_3547+2074dup
XM_006724584.3:c.*919_*923dup	XP_006724647.1:n.*919_*923dup
XM_011530773.2:c.3723_3727dup	XP_011529075.1:p.Lys1243ArgfsTer17
XM_017029359.2:c.4404_4408dup	XP_016884848.1:p.Lys1470ArgfsTer17
XM_017029360.1:c.3936_3940dup	XP_016884849.1:p.Lys1314ArgfsTer17
NM_001111125.3:c.4434_4438dup MANE Select	NP_001104595.1:p.Lys1480ArgfsTer17
NM_015075.2:c.*919_*923dup	NP_055890.1:n.*919_*923dup