Canonical Allele Identifier: CA413148842

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1701839
• ClinVar RCV Id: RCV002277643
• dbSNP Id: rs2147049357
• MyVariant Identifiers: chrX:g.53270991A>C (hg19) ; chrX:g.53241809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53241809A>C , CM000685.2:g.53241809A>C	GRCh38
NC_000023.10:g.53270991A>C , CM000685.1:g.53270991A>C	GRCh37
NC_000023.9:g.53287716A>C	NCBI36
NG_021296.1:g.84532T>G
NG_021296.2:g.84542T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3149T>G	ENSP00000516672.1:p.Val1050Gly
ENST00000638521.1:c.942T>G
ENST00000638869.1:c.451T>G
ENST00000639642.1:c.280T>G
ENST00000640005.1:c.53T>G	ENSP00000491293.1:p.Val18Gly
ENST00000640694.1:c.2990T>G	ENSP00000492403.1:p.Val997Gly
ENST00000642864.1:c.2990T>G MANE Select	ENSP00000495726.1:p.Val997Gly
ENST00000674510.1:c.2990T>G	ENSP00000502054.1:p.Val997Gly
ENST00000674761.1:n.1297T>G
ENST00000675719.1:c.2960T>G	ENSP00000501927.1:p.Val987Gly
ENST00000375365.2:c.2375T>G	ENSP00000364514.2:p.Val792Gly
ENST00000396435.7:c.2990T>G	ENSP00000379712.3:p.Val997Gly
NM_001111125.2:c.2990T>G	NP_001104595.1:p.Val997Gly
NM_015075.1:c.2375T>G	NP_055890.1:p.Val792Gly
XM_006724579.2:c.3086T>G	XP_006724642.1:p.Val1029Gly
XM_006724580.2:c.2375T>G	XP_006724643.1:p.Val792Gly
XM_006724581.2:c.3086T>G	XP_006724644.1:p.Val1029Gly
XM_006724582.2:c.3086T>G	XP_006724645.1:p.Val1029Gly
XM_006724583.2:c.3086T>G	XP_006724646.1:p.Val1029Gly
XM_006724584.2:c.3086T>G	XP_006724647.1:p.Val1029Gly
XM_011530772.1:c.2312T>G	XP_011529074.1:p.Val771Gly
XM_011530773.1:c.2279T>G	XP_011529075.1:p.Val760Gly
XM_011530774.1:c.3086T>G	XP_011529076.1:p.Val1029Gly
XM_011530775.1:c.3086T>G	XP_011529077.1:p.Val1029Gly
XM_011530776.1:c.3086T>G	XP_011529078.1:p.Val1029Gly
XM_011530777.1:c.3086T>G	XP_011529079.1:p.Val1029Gly
XR_938365.1:n.3313T>G
XM_006724579.3:c.3086T>G	XP_006724642.1:p.Val1029Gly
XM_006724580.3:c.2375T>G	XP_006724643.1:p.Val792Gly
XM_006724581.4:c.3086T>G	XP_006724644.1:p.Val1029Gly
XM_006724582.4:c.3086T>G	XP_006724645.1:p.Val1029Gly
XM_006724583.4:c.3086T>G	XP_006724646.1:p.Val1029Gly
XM_006724584.3:c.3086T>G	XP_006724647.1:p.Val1029Gly
XM_011530773.2:c.2279T>G	XP_011529075.1:p.Val760Gly
XM_011530774.3:c.3086T>G	XP_011529076.1:p.Val1029Gly
XM_011530776.2:c.3086T>G	XP_011529078.1:p.Val1029Gly
XM_011530777.2:c.3086T>G	XP_011529079.1:p.Val1029Gly
XM_017029359.2:c.2960T>G	XP_016884848.1:p.Val987Gly
XM_017029360.1:c.2492T>G	XP_016884849.1:p.Val831Gly
XR_938365.2:n.3307T>G
NM_001111125.3:c.2990T>G MANE Select	NP_001104595.1:p.Val997Gly
NM_015075.2:c.2375T>G	NP_055890.1:p.Val792Gly