Canonical Allele Identifier: CA658658988

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 471265
• ClinVar RCV Id: RCV000540202
• dbSNP Id: rs1556863398
• MyVariant Identifiers: chrX:g.53280109dup (hg19) ; chrX:g.53250927dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53250930dup , CM000685.2:g.53250930dup	GRCh38
NC_000023.10:g.53280112dup , CM000685.1:g.53280112dup	GRCh37
NC_000023.9:g.53296837dup	NCBI36
NG_021296.1:g.75414dup
NG_021296.2:g.75424dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.1808dup	ENSP00000516672.1:p.Leu604SerfsTer17
ENST00000640694.1:c.1649dup	ENSP00000492403.1:p.Leu551SerfsTer17
ENST00000642864.1:c.1649dup MANE Select	ENSP00000495726.1:p.Leu551SerfsTer17
ENST00000674510.1:c.1649dup	ENSP00000502054.1:p.Leu551SerfsTer17
ENST00000675719.1:c.1619dup	ENSP00000501927.1:p.Leu541SerfsTer17
ENST00000375365.2:c.1034dup	ENSP00000364514.2:p.Leu346SerfsTer17
ENST00000396435.7:c.1649dup	ENSP00000379712.3:p.Leu551SerfsTer17
NM_001111125.2:c.1649dup	NP_001104595.1:p.Leu551SerfsTer17
NM_015075.1:c.1034dup	NP_055890.1:p.Leu346SerfsTer17
XM_006724579.2:c.1745dup	XP_006724642.1:p.Leu583SerfsTer17
XM_006724580.2:c.1034dup	XP_006724643.1:p.Leu346SerfsTer17
XM_006724581.2:c.1745dup	XP_006724644.1:p.Leu583SerfsTer17
XM_006724582.2:c.1745dup	XP_006724645.1:p.Leu583SerfsTer17
XM_006724583.2:c.1745dup	XP_006724646.1:p.Leu583SerfsTer17
XM_006724584.2:c.1745dup	XP_006724647.1:p.Leu583SerfsTer17
XM_011530772.1:c.971dup	XP_011529074.1:p.Leu325SerfsTer17
XM_011530773.1:c.938dup	XP_011529075.1:p.Leu314SerfsTer17
XM_011530774.1:c.1745dup	XP_011529076.1:p.Leu583SerfsTer17
XM_011530775.1:c.1745dup	XP_011529077.1:p.Leu583SerfsTer17
XM_011530776.1:c.1745dup	XP_011529078.1:p.Leu583SerfsTer17
XM_011530777.1:c.1745dup	XP_011529079.1:p.Leu583SerfsTer17
XR_938365.1:n.1972dup
XM_006724579.3:c.1745dup	XP_006724642.1:p.Leu583SerfsTer17
XM_006724580.3:c.1034dup	XP_006724643.1:p.Leu346SerfsTer17
XM_006724581.4:c.1745dup	XP_006724644.1:p.Leu583SerfsTer17
XM_006724582.4:c.1745dup	XP_006724645.1:p.Leu583SerfsTer17
XM_006724583.4:c.1745dup	XP_006724646.1:p.Leu583SerfsTer17
XM_006724584.3:c.1745dup	XP_006724647.1:p.Leu583SerfsTer17
XM_011530773.2:c.938dup	XP_011529075.1:p.Leu314SerfsTer17
XM_011530774.3:c.1745dup	XP_011529076.1:p.Leu583SerfsTer17
XM_011530776.2:c.1745dup	XP_011529078.1:p.Leu583SerfsTer17
XM_011530777.2:c.1745dup	XP_011529079.1:p.Leu583SerfsTer17
XM_017029359.2:c.1619dup	XP_016884848.1:p.Leu541SerfsTer17
XM_017029360.1:c.1151dup	XP_016884849.1:p.Leu385SerfsTer17
XR_938365.2:n.1966dup
NM_001111125.3:c.1649dup MANE Select	NP_001104595.1:p.Leu551SerfsTer17
NM_015075.2:c.1034dup	NP_055890.1:p.Leu346SerfsTer17