Canonical Allele Identifier: CA413149405

Gene: IQSEC2

Linked Data

• MyVariant Identifiers: chrX:g.53271041C>A (hg19) ; chrX:g.53241859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53241859C>A , CM000685.2:g.53241859C>A	GRCh38
NC_000023.10:g.53271041C>A , CM000685.1:g.53271041C>A	GRCh37
NC_000023.9:g.53287766C>A	NCBI36
NG_021296.1:g.84482G>T
NG_021296.2:g.84492G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3099G>T	ENSP00000516672.1:p.Glu1033Asp
ENST00000638521.1:c.892G>T
ENST00000638869.1:c.401G>T
ENST00000639642.1:c.230G>T
ENST00000640005.1:c.3G>T	ENSP00000491293.1:p.Glu1Asp
ENST00000640694.1:c.2940G>T	ENSP00000492403.1:p.Glu980Asp
ENST00000642864.1:c.2940G>T MANE Select	ENSP00000495726.1:p.Glu980Asp
ENST00000674510.1:c.2940G>T	ENSP00000502054.1:p.Glu980Asp
ENST00000674761.1:n.1247G>T
ENST00000675719.1:c.2910G>T	ENSP00000501927.1:p.Glu970Asp
ENST00000375365.2:c.2325G>T	ENSP00000364514.2:p.Glu775Asp
ENST00000396435.7:c.2940G>T	ENSP00000379712.3:p.Glu980Asp
NM_001111125.2:c.2940G>T	NP_001104595.1:p.Glu980Asp
NM_015075.1:c.2325G>T	NP_055890.1:p.Glu775Asp
XM_006724579.2:c.3036G>T	XP_006724642.1:p.Glu1012Asp
XM_006724580.2:c.2325G>T	XP_006724643.1:p.Glu775Asp
XM_006724581.2:c.3036G>T	XP_006724644.1:p.Glu1012Asp
XM_006724582.2:c.3036G>T	XP_006724645.1:p.Glu1012Asp
XM_006724583.2:c.3036G>T	XP_006724646.1:p.Glu1012Asp
XM_006724584.2:c.3036G>T	XP_006724647.1:p.Glu1012Asp
XM_011530772.1:c.2262G>T	XP_011529074.1:p.Glu754Asp
XM_011530773.1:c.2229G>T	XP_011529075.1:p.Glu743Asp
XM_011530774.1:c.3036G>T	XP_011529076.1:p.Glu1012Asp
XM_011530775.1:c.3036G>T	XP_011529077.1:p.Glu1012Asp
XM_011530776.1:c.3036G>T	XP_011529078.1:p.Glu1012Asp
XM_011530777.1:c.3036G>T	XP_011529079.1:p.Glu1012Asp
XR_938365.1:n.3263G>T
XM_006724579.3:c.3036G>T	XP_006724642.1:p.Glu1012Asp
XM_006724580.3:c.2325G>T	XP_006724643.1:p.Glu775Asp
XM_006724581.4:c.3036G>T	XP_006724644.1:p.Glu1012Asp
XM_006724582.4:c.3036G>T	XP_006724645.1:p.Glu1012Asp
XM_006724583.4:c.3036G>T	XP_006724646.1:p.Glu1012Asp
XM_006724584.3:c.3036G>T	XP_006724647.1:p.Glu1012Asp
XM_011530773.2:c.2229G>T	XP_011529075.1:p.Glu743Asp
XM_011530774.3:c.3036G>T	XP_011529076.1:p.Glu1012Asp
XM_011530776.2:c.3036G>T	XP_011529078.1:p.Glu1012Asp
XM_011530777.2:c.3036G>T	XP_011529079.1:p.Glu1012Asp
XM_017029359.2:c.2910G>T	XP_016884848.1:p.Glu970Asp
XM_017029360.1:c.2442G>T	XP_016884849.1:p.Glu814Asp
XR_938365.2:n.3257G>T
NM_001111125.3:c.2940G>T MANE Select	NP_001104595.1:p.Glu980Asp
NM_015075.2:c.2325G>T	NP_055890.1:p.Glu775Asp