Canonical Allele Identifier: CA413138024

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 449855
• ClinVar RCV Id: RCV000520635
• dbSNP Id: rs1556858900
• gnomAD v4: X-53234223-A-G
• MyVariant Identifiers: chrX:g.53263405A>G (hg19) ; chrX:g.53234223A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53234223A>G , CM000685.2:g.53234223A>G	GRCh38
NC_000023.10:g.53263405A>G , CM000685.1:g.53263405A>G	GRCh37
NC_000023.9:g.53280130A>G	NCBI36
NG_021296.1:g.92118T>C
NG_021296.2:g.92128T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.4622T>C	ENSP00000516672.1:p.Val1541Ala
ENST00000638521.1:c.1453+1560T>C
ENST00000638869.1:c.962+1560T>C
ENST00000639796.1:c.316+2099T>C	ENSP00000492252.1:n.316+2099T>C
ENST00000640005.1:c.514+2099T>C	ENSP00000491293.1:n.514+2099T>C
ENST00000640694.1:c.*948T>C	ENSP00000492403.1:n.*948T>C
ENST00000642864.1:c.4463T>C MANE Select	ENSP00000495726.1:p.Val1488Ala
ENST00000674510.1:c.4463T>C	ENSP00000502054.1:p.Val1488Ala
ENST00000675719.1:c.4433T>C	ENSP00000501927.1:p.Val1478Ala
ENST00000375365.2:c.*948T>C	ENSP00000364514.2:n.*948T>C
ENST00000396435.7:c.4463T>C	ENSP00000379712.3:p.Val1488Ala
NM_001111125.2:c.4463T>C	NP_001104595.1:p.Val1488Ala
NM_015075.1:c.*948T>C	NP_055890.1:n.*948T>C
XM_006724579.2:c.4559T>C	XP_006724642.1:p.Val1520Ala
XM_006724580.2:c.3848T>C	XP_006724643.1:p.Val1283Ala
XM_006724581.2:c.3597+1560T>C	XP_006724644.1:n.3597+1560T>C
XM_006724582.2:c.3597+1560T>C	XP_006724645.1:n.3597+1560T>C
XM_006724583.2:c.3547+2099T>C	XP_006724646.1:n.3547+2099T>C
XM_011530772.1:c.3785T>C	XP_011529074.1:p.Val1262Ala
XM_011530773.1:c.3752T>C	XP_011529075.1:p.Val1251Ala
XM_011530775.1:c.3547+2099T>C	XP_011529077.1:n.3547+2099T>C
XM_006724579.3:c.4559T>C	XP_006724642.1:p.Val1520Ala
XM_006724580.3:c.3848T>C	XP_006724643.1:p.Val1283Ala
XM_006724581.4:c.3597+1560T>C	XP_006724644.1:n.3597+1560T>C
XM_006724582.4:c.3597+1560T>C	XP_006724645.1:n.3597+1560T>C
XM_006724583.4:c.3547+2099T>C	XP_006724646.1:n.3547+2099T>C
XM_006724584.3:c.*948T>C	XP_006724647.1:n.*948T>C
XM_011530773.2:c.3752T>C	XP_011529075.1:p.Val1251Ala
XM_017029359.2:c.4433T>C	XP_016884848.1:p.Val1478Ala
XM_017029360.1:c.3965T>C	XP_016884849.1:p.Val1322Ala
NM_001111125.3:c.4463T>C MANE Select	NP_001104595.1:p.Val1488Ala
NM_015075.2:c.*948T>C	NP_055890.1:n.*948T>C