Canonical Allele Identifier: CA2693799092

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53281497-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53281497T>G , CM000685.2:g.53281497T>G	GRCh38
NC_000023.10:g.53310679T>G , CM000685.1:g.53310679T>G	GRCh37
NC_000023.9:g.53327404T>G	NCBI36
NG_021296.1:g.44844A>C
NG_021296.2:g.44854A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.896+10398A>C	ENSP00000516672.1:n.896+10398A>C
ENST00000462054.6:n.76A>C
ENST00000498281.2:c.25A>C	ENSP00000491470.1:p.Arg9=
ENST00000638583.1:c.25A>C	ENSP00000491820.1:p.Ser9Arg
ENST00000638630.1:c.25A>C	ENSP00000492390.1:p.Ser9Arg
ENST00000639161.2:c.25A>C MANE Plus Clinical	ENSP00000491796.1:p.Arg9=
ENST00000639485.1:c.23-1838A>C
ENST00000639543.1:n.82A>C
ENST00000640694.1:c.737+10398A>C	ENSP00000492403.1:n.737+10398A>C
ENST00000642864.1:c.737+10398A>C MANE Select	ENSP00000495726.1:n.737+10398A>C
ENST00000674510.1:c.737+10398A>C	ENSP00000502054.1:n.737+10398A>C
ENST00000675719.1:c.708-25436A>C	ENSP00000501927.1:n.708-25436A>C
ENST00000675731.1:c.25A>C	ENSP00000502165.1:p.Arg9=
ENST00000375365.2:c.25A>C	ENSP00000364514.2:p.Arg9=
ENST00000396435.7:c.737+10398A>C	ENSP00000379712.3:n.737+10398A>C
ENST00000462054.5:n.98A>C
ENST00000485377.5:n.98A>C
ENST00000498281.1:n.98A>C
NM_001111125.2:c.737+10398A>C	NP_001104595.1:n.737+10398A>C
NM_001243197.1:c.25A>C	NP_001230126.1:p.Arg9=
NM_015075.1:c.25A>C	NP_055890.1:p.Arg9=
XM_006724579.2:c.738-1838A>C	XP_006724642.1:n.738-1838A>C
XM_006724580.2:c.25A>C	XP_006724643.1:p.Arg9=
XM_006724581.2:c.738-1838A>C	XP_006724644.1:n.738-1838A>C
XM_006724582.2:c.738-1838A>C	XP_006724645.1:n.738-1838A>C
XM_006724583.2:c.738-1838A>C	XP_006724646.1:n.738-1838A>C
XM_006724584.2:c.738-1838A>C	XP_006724647.1:n.738-1838A>C
XM_011530773.1:c.25A>C	XP_011529075.1:p.Ser9Arg
XM_011530774.1:c.738-1838A>C	XP_011529076.1:n.738-1838A>C
XM_011530775.1:c.738-1838A>C	XP_011529077.1:n.738-1838A>C
XM_011530776.1:c.738-1838A>C	XP_011529078.1:n.738-1838A>C
XM_011530777.1:c.738-1838A>C	XP_011529079.1:n.738-1838A>C
XR_938365.1:n.965-1838A>C
XM_006724579.3:c.738-1838A>C	XP_006724642.1:n.738-1838A>C
XM_006724580.3:c.25A>C	XP_006724643.1:p.Arg9=
XM_006724581.4:c.738-1838A>C	XP_006724644.1:n.738-1838A>C
XM_006724582.4:c.738-1838A>C	XP_006724645.1:n.738-1838A>C
XM_006724583.4:c.738-1838A>C	XP_006724646.1:n.738-1838A>C
XM_006724584.3:c.738-1838A>C	XP_006724647.1:n.738-1838A>C
XM_011530773.2:c.25A>C	XP_011529075.1:p.Ser9Arg
XM_011530774.3:c.738-1838A>C	XP_011529076.1:n.738-1838A>C
XM_011530776.2:c.738-1838A>C	XP_011529078.1:n.738-1838A>C
XM_011530777.2:c.738-1838A>C	XP_011529079.1:n.738-1838A>C
XM_017029359.2:c.708-25436A>C	XP_016884848.1:n.708-25436A>C
XM_017029360.1:c.25A>C	XP_016884849.1:p.Ser9Arg
XR_938365.2:n.959-1838A>C
NM_001111125.3:c.737+10398A>C MANE Select	NP_001104595.1:n.737+10398A>C
NM_001243197.2:c.25A>C MANE Plus Clinical	NP_001230126.1:p.Arg9=
NM_015075.2:c.25A>C	NP_055890.1:p.Arg9=