Canonical Allele Identifier: CA153181

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 129280
• ClinVar RCV Id: RCV000117281 ; RCV000712005 ; RCV001081112
• dbSNP Id: rs61745228
• ExAC: X:53280117 C / T
• gnomAD v2: X-53280117-C-T
• gnomAD v3: X-53250935-C-T
• gnomAD v4: X-53250935-C-T
• MyVariant Identifiers: chrX:g.53280117C>T (hg19) ; chrX:g.53250935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53250935C>T , CM000685.2:g.53250935C>T	GRCh38
NC_000023.10:g.53280117C>T , CM000685.1:g.53280117C>T	GRCh37
NC_000023.9:g.53296842C>T	NCBI36
NG_021296.1:g.75406G>A
NG_021296.2:g.75416G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.1800G>A	ENSP00000516672.1:p.Ala600=
ENST00000640694.1:c.1641G>A	ENSP00000492403.1:p.Ala547=
ENST00000642864.1:c.1641G>A MANE Select	ENSP00000495726.1:p.Ala547=
ENST00000674510.1:c.1641G>A	ENSP00000502054.1:p.Ala547=
ENST00000675719.1:c.1611G>A	ENSP00000501927.1:p.Ala537=
ENST00000375365.2:c.1026G>A	ENSP00000364514.2:p.Ala342=
ENST00000396435.7:c.1641G>A	ENSP00000379712.3:p.Ala547=
NM_001111125.2:c.1641G>A	NP_001104595.1:p.Ala547=
NM_015075.1:c.1026G>A	NP_055890.1:p.Ala342=
XM_006724579.2:c.1737G>A	XP_006724642.1:p.Ala579=
XM_006724580.2:c.1026G>A	XP_006724643.1:p.Ala342=
XM_006724581.2:c.1737G>A	XP_006724644.1:p.Ala579=
XM_006724582.2:c.1737G>A	XP_006724645.1:p.Ala579=
XM_006724583.2:c.1737G>A	XP_006724646.1:p.Ala579=
XM_006724584.2:c.1737G>A	XP_006724647.1:p.Ala579=
XM_011530772.1:c.963G>A	XP_011529074.1:p.Ala321=
XM_011530773.1:c.930G>A	XP_011529075.1:p.Ala310=
XM_011530774.1:c.1737G>A	XP_011529076.1:p.Ala579=
XM_011530775.1:c.1737G>A	XP_011529077.1:p.Ala579=
XM_011530776.1:c.1737G>A	XP_011529078.1:p.Ala579=
XM_011530777.1:c.1737G>A	XP_011529079.1:p.Ala579=
XR_938365.1:n.1964G>A
XM_006724579.3:c.1737G>A	XP_006724642.1:p.Ala579=
XM_006724580.3:c.1026G>A	XP_006724643.1:p.Ala342=
XM_006724581.4:c.1737G>A	XP_006724644.1:p.Ala579=
XM_006724582.4:c.1737G>A	XP_006724645.1:p.Ala579=
XM_006724583.4:c.1737G>A	XP_006724646.1:p.Ala579=
XM_006724584.3:c.1737G>A	XP_006724647.1:p.Ala579=
XM_011530773.2:c.930G>A	XP_011529075.1:p.Ala310=
XM_011530774.3:c.1737G>A	XP_011529076.1:p.Ala579=
XM_011530776.2:c.1737G>A	XP_011529078.1:p.Ala579=
XM_011530777.2:c.1737G>A	XP_011529079.1:p.Ala579=
XM_017029359.2:c.1611G>A	XP_016884848.1:p.Ala537=
XM_017029360.1:c.1143G>A	XP_016884849.1:p.Ala381=
XR_938365.2:n.1958G>A
NM_001111125.3:c.1641G>A MANE Select	NP_001104595.1:p.Ala547=
NM_015075.2:c.1026G>A	NP_055890.1:p.Ala342=