Canonical Allele Identifier: CA658658990

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 471277
• ClinVar RCV Id: RCV000555522
• dbSNP Id: rs1556865060
• MyVariant Identifiers: chrX:g.53285118del (hg19) ; chrX:g.53255936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53255936del , CM000685.2:g.53255936del	GRCh38
NC_000023.10:g.53285118del , CM000685.1:g.53285118del	GRCh37
NC_000023.9:g.53301843del	NCBI36
NG_021296.1:g.70405del
NG_021296.2:g.70415del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.1022del	ENSP00000516672.1:p.Val341GlyfsTer18
ENST00000638630.1:c.152del	ENSP00000492390.1:p.Val51GlyfsTer18
ENST00000640694.1:c.863del	ENSP00000492403.1:p.Val288GlyfsTer18
ENST00000642864.1:c.863del MANE Select	ENSP00000495726.1:p.Val288GlyfsTer18
ENST00000674510.1:c.863del	ENSP00000502054.1:p.Val288GlyfsTer18
ENST00000675719.1:c.833del	ENSP00000501927.1:p.Val278GlyfsTer18
ENST00000375365.2:c.248del	ENSP00000364514.2:p.Val83GlyfsTer18
ENST00000396435.7:c.863del	ENSP00000379712.3:p.Val288GlyfsTer18
NM_001111125.2:c.863del	NP_001104595.1:p.Val288GlyfsTer18
NM_015075.1:c.248del	NP_055890.1:p.Val83GlyfsTer18
XM_006724579.2:c.959del	XP_006724642.1:p.Val320GlyfsTer18
XM_006724580.2:c.248del	XP_006724643.1:p.Val83GlyfsTer18
XM_006724581.2:c.959del	XP_006724644.1:p.Val320GlyfsTer18
XM_006724582.2:c.959del	XP_006724645.1:p.Val320GlyfsTer18
XM_006724583.2:c.959del	XP_006724646.1:p.Val320GlyfsTer18
XM_006724584.2:c.959del	XP_006724647.1:p.Val320GlyfsTer18
XM_011530772.1:c.185del	XP_011529074.1:p.Val62GlyfsTer18
XM_011530773.1:c.152del	XP_011529075.1:p.Val51GlyfsTer18
XM_011530774.1:c.959del	XP_011529076.1:p.Val320GlyfsTer18
XM_011530775.1:c.959del	XP_011529077.1:p.Val320GlyfsTer18
XM_011530776.1:c.959del	XP_011529078.1:p.Val320GlyfsTer18
XM_011530777.1:c.959del	XP_011529079.1:p.Val320GlyfsTer18
XR_938365.1:n.1186del
XM_006724579.3:c.959del	XP_006724642.1:p.Val320GlyfsTer18
XM_006724580.3:c.248del	XP_006724643.1:p.Val83GlyfsTer18
XM_006724581.4:c.959del	XP_006724644.1:p.Val320GlyfsTer18
XM_006724582.4:c.959del	XP_006724645.1:p.Val320GlyfsTer18
XM_006724583.4:c.959del	XP_006724646.1:p.Val320GlyfsTer18
XM_006724584.3:c.959del	XP_006724647.1:p.Val320GlyfsTer18
XM_011530773.2:c.152del	XP_011529075.1:p.Val51GlyfsTer18
XM_011530774.3:c.959del	XP_011529076.1:p.Val320GlyfsTer18
XM_011530776.2:c.959del	XP_011529078.1:p.Val320GlyfsTer18
XM_011530777.2:c.959del	XP_011529079.1:p.Val320GlyfsTer18
XM_017029359.2:c.833del	XP_016884848.1:p.Val278GlyfsTer18
XM_017029360.1:c.365del	XP_016884849.1:p.Val122GlyfsTer18
XR_938365.2:n.1180del
NM_001111125.3:c.863del MANE Select	NP_001104595.1:p.Val288GlyfsTer18
NM_015075.2:c.248del	NP_055890.1:p.Val83GlyfsTer18