Canonical Allele Identifier: CA10419867

Gene: IQSEC2

Linked Data

• dbSNP Id: rs782047010
• ExAC: X:53271006 A / T
• gnomAD v2: X-53271006-A-T
• gnomAD v4: X-53241824-A-T
• MyVariant Identifiers: chrX:g.53271006A>T (hg19) ; chrX:g.53241824A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53241824A>T , CM000685.2:g.53241824A>T	GRCh38
NC_000023.10:g.53271006A>T , CM000685.1:g.53271006A>T	GRCh37
NC_000023.9:g.53287731A>T	NCBI36
NG_021296.1:g.84517T>A
NG_021296.2:g.84527T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.3134T>A	ENSP00000516672.1:p.Leu1045Ter
ENST00000638521.1:c.927T>A
ENST00000638869.1:c.436T>A
ENST00000639642.1:c.265T>A
ENST00000640005.1:c.38T>A	ENSP00000491293.1:p.Leu13Ter
ENST00000640694.1:c.2975T>A	ENSP00000492403.1:p.Leu992Ter
ENST00000642864.1:c.2975T>A MANE Select	ENSP00000495726.1:p.Leu992Ter
ENST00000674510.1:c.2975T>A	ENSP00000502054.1:p.Leu992Ter
ENST00000674761.1:n.1282T>A
ENST00000675719.1:c.2945T>A	ENSP00000501927.1:p.Leu982Ter
ENST00000375365.2:c.2360T>A	ENSP00000364514.2:p.Leu787Ter
ENST00000396435.7:c.2975T>A	ENSP00000379712.3:p.Leu992Ter
NM_001111125.2:c.2975T>A	NP_001104595.1:p.Leu992Ter
NM_015075.1:c.2360T>A	NP_055890.1:p.Leu787Ter
XM_006724579.2:c.3071T>A	XP_006724642.1:p.Leu1024Ter
XM_006724580.2:c.2360T>A	XP_006724643.1:p.Leu787Ter
XM_006724581.2:c.3071T>A	XP_006724644.1:p.Leu1024Ter
XM_006724582.2:c.3071T>A	XP_006724645.1:p.Leu1024Ter
XM_006724583.2:c.3071T>A	XP_006724646.1:p.Leu1024Ter
XM_006724584.2:c.3071T>A	XP_006724647.1:p.Leu1024Ter
XM_011530772.1:c.2297T>A	XP_011529074.1:p.Leu766Ter
XM_011530773.1:c.2264T>A	XP_011529075.1:p.Leu755Ter
XM_011530774.1:c.3071T>A	XP_011529076.1:p.Leu1024Ter
XM_011530775.1:c.3071T>A	XP_011529077.1:p.Leu1024Ter
XM_011530776.1:c.3071T>A	XP_011529078.1:p.Leu1024Ter
XM_011530777.1:c.3071T>A	XP_011529079.1:p.Leu1024Ter
XR_938365.1:n.3298T>A
XM_006724579.3:c.3071T>A	XP_006724642.1:p.Leu1024Ter
XM_006724580.3:c.2360T>A	XP_006724643.1:p.Leu787Ter
XM_006724581.4:c.3071T>A	XP_006724644.1:p.Leu1024Ter
XM_006724582.4:c.3071T>A	XP_006724645.1:p.Leu1024Ter
XM_006724583.4:c.3071T>A	XP_006724646.1:p.Leu1024Ter
XM_006724584.3:c.3071T>A	XP_006724647.1:p.Leu1024Ter
XM_011530773.2:c.2264T>A	XP_011529075.1:p.Leu755Ter
XM_011530774.3:c.3071T>A	XP_011529076.1:p.Leu1024Ter
XM_011530776.2:c.3071T>A	XP_011529078.1:p.Leu1024Ter
XM_011530777.2:c.3071T>A	XP_011529079.1:p.Leu1024Ter
XM_017029359.2:c.2945T>A	XP_016884848.1:p.Leu982Ter
XM_017029360.1:c.2477T>A	XP_016884849.1:p.Leu826Ter
XR_938365.2:n.3292T>A
NM_001111125.3:c.2975T>A MANE Select	NP_001104595.1:p.Leu992Ter
NM_015075.2:c.2360T>A	NP_055890.1:p.Leu787Ter