Canonical Allele Identifier: CA413141941

Gene: IQSEC2

Linked Data

• MyVariant Identifiers: chrX:g.53264241A>T (hg19) ; chrX:g.53235059A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235059A>T , CM000685.2:g.53235059A>T	GRCh38
NC_000023.10:g.53264241A>T , CM000685.1:g.53264241A>T	GRCh37
NC_000023.9:g.53280966A>T	NCBI36
NG_021296.1:g.91282T>A
NG_021296.2:g.91292T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3786T>A	ENSP00000516672.1:p.Phe1262Leu
ENST00000638521.1:c.1453+724T>A
ENST00000638869.1:c.962+724T>A
ENST00000639796.1:c.316+1263T>A	ENSP00000492252.1:n.316+1263T>A
ENST00000640005.1:c.514+1263T>A	ENSP00000491293.1:n.514+1263T>A
ENST00000640694.1:c.*112T>A	ENSP00000492403.1:n.*112T>A
ENST00000642864.1:c.3627T>A MANE Select	ENSP00000495726.1:p.Phe1209Leu
ENST00000674510.1:c.3627T>A	ENSP00000502054.1:p.Phe1209Leu
ENST00000675719.1:c.3597T>A	ENSP00000501927.1:p.Phe1199Leu
ENST00000375365.2:c.*112T>A	ENSP00000364514.2:n.*112T>A
ENST00000396435.7:c.3627T>A	ENSP00000379712.3:p.Phe1209Leu
NM_001111125.2:c.3627T>A	NP_001104595.1:p.Phe1209Leu
NM_015075.1:c.*112T>A	NP_055890.1:n.*112T>A
XM_006724579.2:c.3723T>A	XP_006724642.1:p.Phe1241Leu
XM_006724580.2:c.3012T>A	XP_006724643.1:p.Phe1004Leu
XM_006724581.2:c.3597+724T>A	XP_006724644.1:n.3597+724T>A
XM_006724582.2:c.3597+724T>A	XP_006724645.1:n.3597+724T>A
XM_006724583.2:c.3547+1263T>A	XP_006724646.1:n.3547+1263T>A
XM_006724584.2:c.*112T>A	XP_006724647.1:n.*112T>A
XM_011530772.1:c.2949T>A	XP_011529074.1:p.Phe983Leu
XM_011530773.1:c.2916T>A	XP_011529075.1:p.Phe972Leu
XM_011530775.1:c.3547+1263T>A	XP_011529077.1:n.3547+1263T>A
XM_006724579.3:c.3723T>A	XP_006724642.1:p.Phe1241Leu
XM_006724580.3:c.3012T>A	XP_006724643.1:p.Phe1004Leu
XM_006724581.4:c.3597+724T>A	XP_006724644.1:n.3597+724T>A
XM_006724582.4:c.3597+724T>A	XP_006724645.1:n.3597+724T>A
XM_006724583.4:c.3547+1263T>A	XP_006724646.1:n.3547+1263T>A
XM_006724584.3:c.*112T>A	XP_006724647.1:n.*112T>A
XM_011530773.2:c.2916T>A	XP_011529075.1:p.Phe972Leu
XM_017029359.2:c.3597T>A	XP_016884848.1:p.Phe1199Leu
XM_017029360.1:c.3129T>A	XP_016884849.1:p.Phe1043Leu
NM_001111125.3:c.3627T>A MANE Select	NP_001104595.1:p.Phe1209Leu
NM_015075.2:c.*112T>A	NP_055890.1:n.*112T>A