Canonical Allele Identifier: CA413153798

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 2759554
• ClinVar RCV Id: RCV003510121
• gnomAD v4: X-53243393-G-C
• MyVariant Identifiers: chrX:g.53272575G>C (hg19) ; chrX:g.53243393G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53243393G>C , CM000685.2:g.53243393G>C	GRCh38
NC_000023.10:g.53272575G>C , CM000685.1:g.53272575G>C	GRCh37
NC_000023.9:g.53289300G>C	NCBI36
NG_021296.1:g.82948C>G
NG_021296.2:g.82958C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2987C>G	ENSP00000516672.1:p.Thr996Ser
ENST00000638521.1:c.780C>G
ENST00000638869.1:c.289C>G
ENST00000639642.1:c.118C>G
ENST00000640694.1:c.2828C>G	ENSP00000492403.1:p.Thr943Ser
ENST00000642864.1:c.2828C>G MANE Select	ENSP00000495726.1:p.Thr943Ser
ENST00000674510.1:c.2828C>G	ENSP00000502054.1:p.Thr943Ser
ENST00000674761.1:n.579C>G
ENST00000675719.1:c.2798C>G	ENSP00000501927.1:p.Thr933Ser
ENST00000375365.2:c.2213C>G	ENSP00000364514.2:p.Thr738Ser
ENST00000396435.7:c.2828C>G	ENSP00000379712.3:p.Thr943Ser
NM_001111125.2:c.2828C>G	NP_001104595.1:p.Thr943Ser
NM_015075.1:c.2213C>G	NP_055890.1:p.Thr738Ser
XM_006724579.2:c.2924C>G	XP_006724642.1:p.Thr975Ser
XM_006724580.2:c.2213C>G	XP_006724643.1:p.Thr738Ser
XM_006724581.2:c.2924C>G	XP_006724644.1:p.Thr975Ser
XM_006724582.2:c.2924C>G	XP_006724645.1:p.Thr975Ser
XM_006724583.2:c.2924C>G	XP_006724646.1:p.Thr975Ser
XM_006724584.2:c.2924C>G	XP_006724647.1:p.Thr975Ser
XM_011530772.1:c.2150C>G	XP_011529074.1:p.Thr717Ser
XM_011530773.1:c.2117C>G	XP_011529075.1:p.Thr706Ser
XM_011530774.1:c.2924C>G	XP_011529076.1:p.Thr975Ser
XM_011530775.1:c.2924C>G	XP_011529077.1:p.Thr975Ser
XM_011530776.1:c.2924C>G	XP_011529078.1:p.Thr975Ser
XM_011530777.1:c.2924C>G	XP_011529079.1:p.Thr975Ser
XR_938365.1:n.3151C>G
XM_006724579.3:c.2924C>G	XP_006724642.1:p.Thr975Ser
XM_006724580.3:c.2213C>G	XP_006724643.1:p.Thr738Ser
XM_006724581.4:c.2924C>G	XP_006724644.1:p.Thr975Ser
XM_006724582.4:c.2924C>G	XP_006724645.1:p.Thr975Ser
XM_006724583.4:c.2924C>G	XP_006724646.1:p.Thr975Ser
XM_006724584.3:c.2924C>G	XP_006724647.1:p.Thr975Ser
XM_011530773.2:c.2117C>G	XP_011529075.1:p.Thr706Ser
XM_011530774.3:c.2924C>G	XP_011529076.1:p.Thr975Ser
XM_011530776.2:c.2924C>G	XP_011529078.1:p.Thr975Ser
XM_011530777.2:c.2924C>G	XP_011529079.1:p.Thr975Ser
XM_017029359.2:c.2798C>G	XP_016884848.1:p.Thr933Ser
XM_017029360.1:c.2330C>G	XP_016884849.1:p.Thr777Ser
XR_938365.2:n.3145C>G
NM_001111125.3:c.2828C>G MANE Select	NP_001104595.1:p.Thr943Ser
NM_015075.2:c.2213C>G	NP_055890.1:p.Thr738Ser