Canonical Allele Identifier: CA413148933

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 2017921
• ClinVar RCV Id: RCV002870682
• MyVariant Identifiers: chrX:g.53270997C>G (hg19) ; chrX:g.53241815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53241815C>G , CM000685.2:g.53241815C>G	GRCh38
NC_000023.10:g.53270997C>G , CM000685.1:g.53270997C>G	GRCh37
NC_000023.9:g.53287722C>G	NCBI36
NG_021296.1:g.84526G>C
NG_021296.2:g.84536G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3143G>C	ENSP00000516672.1:p.Arg1048Pro
ENST00000638521.1:c.936G>C
ENST00000638869.1:c.445G>C
ENST00000639642.1:c.274G>C
ENST00000640005.1:c.47G>C	ENSP00000491293.1:p.Arg16Pro
ENST00000640694.1:c.2984G>C	ENSP00000492403.1:p.Arg995Pro
ENST00000642864.1:c.2984G>C MANE Select	ENSP00000495726.1:p.Arg995Pro
ENST00000674510.1:c.2984G>C	ENSP00000502054.1:p.Arg995Pro
ENST00000674761.1:n.1291G>C
ENST00000675719.1:c.2954G>C	ENSP00000501927.1:p.Arg985Pro
ENST00000375365.2:c.2369G>C	ENSP00000364514.2:p.Arg790Pro
ENST00000396435.7:c.2984G>C	ENSP00000379712.3:p.Arg995Pro
NM_001111125.2:c.2984G>C	NP_001104595.1:p.Arg995Pro
NM_015075.1:c.2369G>C	NP_055890.1:p.Arg790Pro
XM_006724579.2:c.3080G>C	XP_006724642.1:p.Arg1027Pro
XM_006724580.2:c.2369G>C	XP_006724643.1:p.Arg790Pro
XM_006724581.2:c.3080G>C	XP_006724644.1:p.Arg1027Pro
XM_006724582.2:c.3080G>C	XP_006724645.1:p.Arg1027Pro
XM_006724583.2:c.3080G>C	XP_006724646.1:p.Arg1027Pro
XM_006724584.2:c.3080G>C	XP_006724647.1:p.Arg1027Pro
XM_011530772.1:c.2306G>C	XP_011529074.1:p.Arg769Pro
XM_011530773.1:c.2273G>C	XP_011529075.1:p.Arg758Pro
XM_011530774.1:c.3080G>C	XP_011529076.1:p.Arg1027Pro
XM_011530775.1:c.3080G>C	XP_011529077.1:p.Arg1027Pro
XM_011530776.1:c.3080G>C	XP_011529078.1:p.Arg1027Pro
XM_011530777.1:c.3080G>C	XP_011529079.1:p.Arg1027Pro
XR_938365.1:n.3307G>C
XM_006724579.3:c.3080G>C	XP_006724642.1:p.Arg1027Pro
XM_006724580.3:c.2369G>C	XP_006724643.1:p.Arg790Pro
XM_006724581.4:c.3080G>C	XP_006724644.1:p.Arg1027Pro
XM_006724582.4:c.3080G>C	XP_006724645.1:p.Arg1027Pro
XM_006724583.4:c.3080G>C	XP_006724646.1:p.Arg1027Pro
XM_006724584.3:c.3080G>C	XP_006724647.1:p.Arg1027Pro
XM_011530773.2:c.2273G>C	XP_011529075.1:p.Arg758Pro
XM_011530774.3:c.3080G>C	XP_011529076.1:p.Arg1027Pro
XM_011530776.2:c.3080G>C	XP_011529078.1:p.Arg1027Pro
XM_011530777.2:c.3080G>C	XP_011529079.1:p.Arg1027Pro
XM_017029359.2:c.2954G>C	XP_016884848.1:p.Arg985Pro
XM_017029360.1:c.2486G>C	XP_016884849.1:p.Arg829Pro
XR_938365.2:n.3301G>C
NM_001111125.3:c.2984G>C MANE Select	NP_001104595.1:p.Arg995Pro
NM_015075.2:c.2369G>C	NP_055890.1:p.Arg790Pro