Canonical Allele Identifier: CA413158959

Gene: IQSEC2

Linked Data

• MyVariant Identifiers: chrX:g.53278055C>G (hg19) ; chrX:g.53248873C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53248873C>G , CM000685.2:g.53248873C>G	GRCh38
NC_000023.10:g.53278055C>G , CM000685.1:g.53278055C>G	GRCh37
NC_000023.9:g.53294780C>G	NCBI36
NG_021296.1:g.77468G>C
NG_021296.2:g.77478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2466G>C	ENSP00000516672.1:p.Glu822Asp
ENST00000638521.1:c.259G>C
ENST00000640694.1:c.2307G>C	ENSP00000492403.1:p.Glu769Asp
ENST00000642864.1:c.2307G>C MANE Select	ENSP00000495726.1:p.Glu769Asp
ENST00000674510.1:c.2307G>C	ENSP00000502054.1:p.Glu769Asp
ENST00000675719.1:c.2277G>C	ENSP00000501927.1:p.Glu759Asp
ENST00000375365.2:c.1692G>C	ENSP00000364514.2:p.Glu564Asp
ENST00000396435.7:c.2307G>C	ENSP00000379712.3:p.Glu769Asp
NM_001111125.2:c.2307G>C	NP_001104595.1:p.Glu769Asp
NM_015075.1:c.1692G>C	NP_055890.1:p.Glu564Asp
XM_006724579.2:c.2403G>C	XP_006724642.1:p.Glu801Asp
XM_006724580.2:c.1692G>C	XP_006724643.1:p.Glu564Asp
XM_006724581.2:c.2403G>C	XP_006724644.1:p.Glu801Asp
XM_006724582.2:c.2403G>C	XP_006724645.1:p.Glu801Asp
XM_006724583.2:c.2403G>C	XP_006724646.1:p.Glu801Asp
XM_006724584.2:c.2403G>C	XP_006724647.1:p.Glu801Asp
XM_011530772.1:c.1629G>C	XP_011529074.1:p.Glu543Asp
XM_011530773.1:c.1596G>C	XP_011529075.1:p.Glu532Asp
XM_011530774.1:c.2403G>C	XP_011529076.1:p.Glu801Asp
XM_011530775.1:c.2403G>C	XP_011529077.1:p.Glu801Asp
XM_011530776.1:c.2403G>C	XP_011529078.1:p.Glu801Asp
XM_011530777.1:c.2403G>C	XP_011529079.1:p.Glu801Asp
XR_938365.1:n.2630G>C
XM_006724579.3:c.2403G>C	XP_006724642.1:p.Glu801Asp
XM_006724580.3:c.1692G>C	XP_006724643.1:p.Glu564Asp
XM_006724581.4:c.2403G>C	XP_006724644.1:p.Glu801Asp
XM_006724582.4:c.2403G>C	XP_006724645.1:p.Glu801Asp
XM_006724583.4:c.2403G>C	XP_006724646.1:p.Glu801Asp
XM_006724584.3:c.2403G>C	XP_006724647.1:p.Glu801Asp
XM_011530773.2:c.1596G>C	XP_011529075.1:p.Glu532Asp
XM_011530774.3:c.2403G>C	XP_011529076.1:p.Glu801Asp
XM_011530776.2:c.2403G>C	XP_011529078.1:p.Glu801Asp
XM_011530777.2:c.2403G>C	XP_011529079.1:p.Glu801Asp
XM_017029359.2:c.2277G>C	XP_016884848.1:p.Glu759Asp
XM_017029360.1:c.1809G>C	XP_016884849.1:p.Glu603Asp
XR_938365.2:n.2624G>C
NM_001111125.3:c.2307G>C MANE Select	NP_001104595.1:p.Glu769Asp
NM_015075.2:c.1692G>C	NP_055890.1:p.Glu564Asp