Canonical Allele Identifier: CA413149103

Gene: IQSEC2

Linked Data

• dbSNP Id: rs782701676
• gnomAD v2: X-53271010-C-T
• MyVariant Identifiers: chrX:g.53271010C>T (hg19) ; chrX:g.53241828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53241828C>T , CM000685.2:g.53241828C>T	GRCh38
NC_000023.10:g.53271010C>T , CM000685.1:g.53271010C>T	GRCh37
NC_000023.9:g.53287735C>T	NCBI36
NG_021296.1:g.84513G>A
NG_021296.2:g.84523G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.3130G>A	ENSP00000516672.1:p.Gly1044Arg
ENST00000638521.1:c.923G>A
ENST00000638869.1:c.432G>A
ENST00000639642.1:c.261G>A
ENST00000640005.1:c.34G>A	ENSP00000491293.1:p.Gly12Arg
ENST00000640694.1:c.2971G>A	ENSP00000492403.1:p.Gly991Arg
ENST00000642864.1:c.2971G>A MANE Select	ENSP00000495726.1:p.Gly991Arg
ENST00000674510.1:c.2971G>A	ENSP00000502054.1:p.Gly991Arg
ENST00000674761.1:n.1278G>A
ENST00000675719.1:c.2941G>A	ENSP00000501927.1:p.Gly981Arg
ENST00000375365.2:c.2356G>A	ENSP00000364514.2:p.Gly786Arg
ENST00000396435.7:c.2971G>A	ENSP00000379712.3:p.Gly991Arg
NM_001111125.2:c.2971G>A	NP_001104595.1:p.Gly991Arg
NM_015075.1:c.2356G>A	NP_055890.1:p.Gly786Arg
XM_006724579.2:c.3067G>A	XP_006724642.1:p.Gly1023Arg
XM_006724580.2:c.2356G>A	XP_006724643.1:p.Gly786Arg
XM_006724581.2:c.3067G>A	XP_006724644.1:p.Gly1023Arg
XM_006724582.2:c.3067G>A	XP_006724645.1:p.Gly1023Arg
XM_006724583.2:c.3067G>A	XP_006724646.1:p.Gly1023Arg
XM_006724584.2:c.3067G>A	XP_006724647.1:p.Gly1023Arg
XM_011530772.1:c.2293G>A	XP_011529074.1:p.Gly765Arg
XM_011530773.1:c.2260G>A	XP_011529075.1:p.Gly754Arg
XM_011530774.1:c.3067G>A	XP_011529076.1:p.Gly1023Arg
XM_011530775.1:c.3067G>A	XP_011529077.1:p.Gly1023Arg
XM_011530776.1:c.3067G>A	XP_011529078.1:p.Gly1023Arg
XM_011530777.1:c.3067G>A	XP_011529079.1:p.Gly1023Arg
XR_938365.1:n.3294G>A
XM_006724579.3:c.3067G>A	XP_006724642.1:p.Gly1023Arg
XM_006724580.3:c.2356G>A	XP_006724643.1:p.Gly786Arg
XM_006724581.4:c.3067G>A	XP_006724644.1:p.Gly1023Arg
XM_006724582.4:c.3067G>A	XP_006724645.1:p.Gly1023Arg
XM_006724583.4:c.3067G>A	XP_006724646.1:p.Gly1023Arg
XM_006724584.3:c.3067G>A	XP_006724647.1:p.Gly1023Arg
XM_011530773.2:c.2260G>A	XP_011529075.1:p.Gly754Arg
XM_011530774.3:c.3067G>A	XP_011529076.1:p.Gly1023Arg
XM_011530776.2:c.3067G>A	XP_011529078.1:p.Gly1023Arg
XM_011530777.2:c.3067G>A	XP_011529079.1:p.Gly1023Arg
XM_017029359.2:c.2941G>A	XP_016884848.1:p.Gly981Arg
XM_017029360.1:c.2473G>A	XP_016884849.1:p.Gly825Arg
XR_938365.2:n.3288G>A
NM_001111125.3:c.2971G>A MANE Select	NP_001104595.1:p.Gly991Arg
NM_015075.2:c.2356G>A	NP_055890.1:p.Gly786Arg