Canonical Allele Identifier: CA281600

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 10865
• ClinVar RCV Id: RCV000011612
• dbSNP Id: rs267607188
• MyVariant Identifiers: chrX:g.53284038G>A (hg19) ; chrX:g.53254856G>A (hg38)
• PubMed: PMID:20473311 ; PMID:26733290

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53254856G>A , CM000685.2:g.53254856G>A	GRCh38
NC_000023.10:g.53284038G>A , CM000685.1:g.53284038G>A	GRCh37
NC_000023.9:g.53300763G>A	NCBI36
NG_021296.1:g.71485C>T
NG_021296.2:g.71495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.1234C>T	ENSP00000516672.1:p.Arg412Cys
ENST00000638630.1:c.364C>T	ENSP00000492390.1:p.Arg122Cys
ENST00000640694.1:c.1075C>T	ENSP00000492403.1:p.Arg359Cys
ENST00000642864.1:c.1075C>T MANE Select	ENSP00000495726.1:p.Arg359Cys
ENST00000674510.1:c.1075C>T	ENSP00000502054.1:p.Arg359Cys
ENST00000675719.1:c.1045C>T	ENSP00000501927.1:p.Arg349Cys
ENST00000375365.2:c.460C>T	ENSP00000364514.2:p.Arg154Cys
ENST00000396435.7:c.1075C>T	ENSP00000379712.3:p.Arg359Cys
NM_001111125.2:c.1075C>T	NP_001104595.1:p.Arg359Cys
NM_015075.1:c.460C>T	NP_055890.1:p.Arg154Cys
XM_006724579.2:c.1171C>T	XP_006724642.1:p.Arg391Cys
XM_006724580.2:c.460C>T	XP_006724643.1:p.Arg154Cys
XM_006724581.2:c.1171C>T	XP_006724644.1:p.Arg391Cys
XM_006724582.2:c.1171C>T	XP_006724645.1:p.Arg391Cys
XM_006724583.2:c.1171C>T	XP_006724646.1:p.Arg391Cys
XM_006724584.2:c.1171C>T	XP_006724647.1:p.Arg391Cys
XM_011530772.1:c.397C>T	XP_011529074.1:p.Arg133Cys
XM_011530773.1:c.364C>T	XP_011529075.1:p.Arg122Cys
XM_011530774.1:c.1171C>T	XP_011529076.1:p.Arg391Cys
XM_011530775.1:c.1171C>T	XP_011529077.1:p.Arg391Cys
XM_011530776.1:c.1171C>T	XP_011529078.1:p.Arg391Cys
XM_011530777.1:c.1171C>T	XP_011529079.1:p.Arg391Cys
XR_938365.1:n.1398C>T
XM_006724579.3:c.1171C>T	XP_006724642.1:p.Arg391Cys
XM_006724580.3:c.460C>T	XP_006724643.1:p.Arg154Cys
XM_006724581.4:c.1171C>T	XP_006724644.1:p.Arg391Cys
XM_006724582.4:c.1171C>T	XP_006724645.1:p.Arg391Cys
XM_006724583.4:c.1171C>T	XP_006724646.1:p.Arg391Cys
XM_006724584.3:c.1171C>T	XP_006724647.1:p.Arg391Cys
XM_011530773.2:c.364C>T	XP_011529075.1:p.Arg122Cys
XM_011530774.3:c.1171C>T	XP_011529076.1:p.Arg391Cys
XM_011530776.2:c.1171C>T	XP_011529078.1:p.Arg391Cys
XM_011530777.2:c.1171C>T	XP_011529079.1:p.Arg391Cys
XM_017029359.2:c.1045C>T	XP_016884848.1:p.Arg349Cys
XM_017029360.1:c.577C>T	XP_016884849.1:p.Arg193Cys
XR_938365.2:n.1392C>T
NM_001111125.3:c.1075C>T MANE Select	NP_001104595.1:p.Arg359Cys
NM_015075.2:c.460C>T	NP_055890.1:p.Arg154Cys