Canonical Allele Identifier: CA516674121

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 2975701
• ClinVar RCV Id: RCV003833787
• dbSNP Id: rs1362394349
• gnomAD v2: X-53279922-G-A
• gnomAD v3: X-53250740-G-A
• gnomAD v4: X-53250740-G-A
• COSMIC: COSM6041754 ; COSM6041755 ; COSM6041756
• MyVariant Identifiers: chrX:g.53279922G>A (hg19) ; chrX:g.53250740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53250740G>A , CM000685.2:g.53250740G>A	GRCh38
NC_000023.10:g.53279922G>A , CM000685.1:g.53279922G>A	GRCh37
NC_000023.9:g.53296647G>A	NCBI36
NG_021296.1:g.75601C>T
NG_021296.2:g.75611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.1995C>T	ENSP00000516672.1:p.Arg665=
ENST00000640694.1:c.1836C>T	ENSP00000492403.1:p.Arg612=
ENST00000642864.1:c.1836C>T MANE Select	ENSP00000495726.1:p.Arg612=
ENST00000674510.1:c.1836C>T	ENSP00000502054.1:p.Arg612=
ENST00000675719.1:c.1806C>T	ENSP00000501927.1:p.Arg602=
ENST00000375365.2:c.1221C>T	ENSP00000364514.2:p.Arg407=
ENST00000396435.7:c.1836C>T	ENSP00000379712.3:p.Arg612=
NM_001111125.2:c.1836C>T	NP_001104595.1:p.Arg612=
NM_015075.1:c.1221C>T	NP_055890.1:p.Arg407=
XM_006724579.2:c.1932C>T	XP_006724642.1:p.Arg644=
XM_006724580.2:c.1221C>T	XP_006724643.1:p.Arg407=
XM_006724581.2:c.1932C>T	XP_006724644.1:p.Arg644=
XM_006724582.2:c.1932C>T	XP_006724645.1:p.Arg644=
XM_006724583.2:c.1932C>T	XP_006724646.1:p.Arg644=
XM_006724584.2:c.1932C>T	XP_006724647.1:p.Arg644=
XM_011530772.1:c.1158C>T	XP_011529074.1:p.Arg386=
XM_011530773.1:c.1125C>T	XP_011529075.1:p.Arg375=
XM_011530774.1:c.1932C>T	XP_011529076.1:p.Arg644=
XM_011530775.1:c.1932C>T	XP_011529077.1:p.Arg644=
XM_011530776.1:c.1932C>T	XP_011529078.1:p.Arg644=
XM_011530777.1:c.1932C>T	XP_011529079.1:p.Arg644=
XR_938365.1:n.2159C>T
XM_006724579.3:c.1932C>T	XP_006724642.1:p.Arg644=
XM_006724580.3:c.1221C>T	XP_006724643.1:p.Arg407=
XM_006724581.4:c.1932C>T	XP_006724644.1:p.Arg644=
XM_006724582.4:c.1932C>T	XP_006724645.1:p.Arg644=
XM_006724583.4:c.1932C>T	XP_006724646.1:p.Arg644=
XM_006724584.3:c.1932C>T	XP_006724647.1:p.Arg644=
XM_011530773.2:c.1125C>T	XP_011529075.1:p.Arg375=
XM_011530774.3:c.1932C>T	XP_011529076.1:p.Arg644=
XM_011530776.2:c.1932C>T	XP_011529078.1:p.Arg644=
XM_011530777.2:c.1932C>T	XP_011529079.1:p.Arg644=
XM_017029359.2:c.1806C>T	XP_016884848.1:p.Arg602=
XM_017029360.1:c.1338C>T	XP_016884849.1:p.Arg446=
XR_938365.2:n.2153C>T
NM_001111125.3:c.1836C>T MANE Select	NP_001104595.1:p.Arg612=
NM_015075.2:c.1221C>T	NP_055890.1:p.Arg407=