Canonical Allele Identifier: CA516674001

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1530796
• ClinVar RCV Id: RCV002092049
• dbSNP Id: rs1556859307
• gnomAD v4: X-53235113-C-T
• MyVariant Identifiers: chrX:g.53264295C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235113C>T , CM000685.2:g.53235113C>T	GRCh38
NC_000023.10:g.53264295C>T , CM000685.1:g.53264295C>T	GRCh37
NC_000023.9:g.53281020C>T	NCBI36
NG_021296.1:g.91228G>A
NG_021296.2:g.91238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3732G>A	ENSP00000516672.1:p.Glu1244=
ENST00000638521.1:c.1453+670G>A
ENST00000638869.1:c.962+670G>A
ENST00000639796.1:c.316+1209G>A	ENSP00000492252.1:n.316+1209G>A
ENST00000640005.1:c.514+1209G>A	ENSP00000491293.1:n.514+1209G>A
ENST00000640436.1:n.553G>A
ENST00000640694.1:c.*58G>A	ENSP00000492403.1:n.*58G>A
ENST00000642864.1:c.3573G>A MANE Select	ENSP00000495726.1:p.Glu1191=
ENST00000674510.1:c.3573G>A	ENSP00000502054.1:p.Glu1191=
ENST00000675719.1:c.3543G>A	ENSP00000501927.1:p.Glu1181=
ENST00000375365.2:c.*58G>A	ENSP00000364514.2:n.*58G>A
ENST00000396435.7:c.3573G>A	ENSP00000379712.3:p.Glu1191=
NM_001111125.2:c.3573G>A	NP_001104595.1:p.Glu1191=
NM_015075.1:c.*58G>A	NP_055890.1:n.*58G>A
XM_006724579.2:c.3669G>A	XP_006724642.1:p.Glu1223=
XM_006724580.2:c.2958G>A	XP_006724643.1:p.Glu986=
XM_006724581.2:c.3597+670G>A	XP_006724644.1:n.3597+670G>A
XM_006724582.2:c.3597+670G>A	XP_006724645.1:n.3597+670G>A
XM_006724583.2:c.3547+1209G>A	XP_006724646.1:n.3547+1209G>A
XM_006724584.2:c.*58G>A	XP_006724647.1:n.*58G>A
XM_011530772.1:c.2895G>A	XP_011529074.1:p.Glu965=
XM_011530773.1:c.2862G>A	XP_011529075.1:p.Glu954=
XM_011530775.1:c.3547+1209G>A	XP_011529077.1:n.3547+1209G>A
XM_006724579.3:c.3669G>A	XP_006724642.1:p.Glu1223=
XM_006724580.3:c.2958G>A	XP_006724643.1:p.Glu986=
XM_006724581.4:c.3597+670G>A	XP_006724644.1:n.3597+670G>A
XM_006724582.4:c.3597+670G>A	XP_006724645.1:n.3597+670G>A
XM_006724583.4:c.3547+1209G>A	XP_006724646.1:n.3547+1209G>A
XM_006724584.3:c.*58G>A	XP_006724647.1:n.*58G>A
XM_011530773.2:c.2862G>A	XP_011529075.1:p.Glu954=
XM_017029359.2:c.3543G>A	XP_016884848.1:p.Glu1181=
XM_017029360.1:c.3075G>A	XP_016884849.1:p.Glu1025=
NM_001111125.3:c.3573G>A MANE Select	NP_001104595.1:p.Glu1191=
NM_015075.2:c.*58G>A	NP_055890.1:n.*58G>A