Canonical Allele Identifier: CA516674619

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53256031-C-T
• MyVariant Identifiers: chrX:g.53285213C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53256031C>T , CM000685.2:g.53256031C>T	GRCh38
NC_000023.10:g.53285213C>T , CM000685.1:g.53285213C>T	GRCh37
NC_000023.9:g.53301938C>T	NCBI36
NG_021296.1:g.70310G>A
NG_021296.2:g.70320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.927G>A	ENSP00000516672.1:p.Leu309=
ENST00000638630.1:c.57G>A	ENSP00000492390.1:p.Leu19=
ENST00000640694.1:c.768G>A	ENSP00000492403.1:p.Leu256=
ENST00000642864.1:c.768G>A MANE Select	ENSP00000495726.1:p.Leu256=
ENST00000674510.1:c.768G>A	ENSP00000502054.1:p.Leu256=
ENST00000675719.1:c.738G>A	ENSP00000501927.1:p.Leu246=
ENST00000375365.2:c.153G>A	ENSP00000364514.2:p.Leu51=
ENST00000396435.7:c.768G>A	ENSP00000379712.3:p.Leu256=
NM_001111125.2:c.768G>A	NP_001104595.1:p.Leu256=
NM_015075.1:c.153G>A	NP_055890.1:p.Leu51=
XM_006724579.2:c.864G>A	XP_006724642.1:p.Leu288=
XM_006724580.2:c.153G>A	XP_006724643.1:p.Leu51=
XM_006724581.2:c.864G>A	XP_006724644.1:p.Leu288=
XM_006724582.2:c.864G>A	XP_006724645.1:p.Leu288=
XM_006724583.2:c.864G>A	XP_006724646.1:p.Leu288=
XM_006724584.2:c.864G>A	XP_006724647.1:p.Leu288=
XM_011530772.1:c.90G>A	XP_011529074.1:p.Leu30=
XM_011530773.1:c.57G>A	XP_011529075.1:p.Leu19=
XM_011530774.1:c.864G>A	XP_011529076.1:p.Leu288=
XM_011530775.1:c.864G>A	XP_011529077.1:p.Leu288=
XM_011530776.1:c.864G>A	XP_011529078.1:p.Leu288=
XM_011530777.1:c.864G>A	XP_011529079.1:p.Leu288=
XR_938365.1:n.1091G>A
XM_006724579.3:c.864G>A	XP_006724642.1:p.Leu288=
XM_006724580.3:c.153G>A	XP_006724643.1:p.Leu51=
XM_006724581.4:c.864G>A	XP_006724644.1:p.Leu288=
XM_006724582.4:c.864G>A	XP_006724645.1:p.Leu288=
XM_006724583.4:c.864G>A	XP_006724646.1:p.Leu288=
XM_006724584.3:c.864G>A	XP_006724647.1:p.Leu288=
XM_011530773.2:c.57G>A	XP_011529075.1:p.Leu19=
XM_011530774.3:c.864G>A	XP_011529076.1:p.Leu288=
XM_011530776.2:c.864G>A	XP_011529078.1:p.Leu288=
XM_011530777.2:c.864G>A	XP_011529079.1:p.Leu288=
XM_017029359.2:c.738G>A	XP_016884848.1:p.Leu246=
XM_017029360.1:c.270G>A	XP_016884849.1:p.Leu90=
XR_938365.2:n.1085G>A
NM_001111125.3:c.768G>A MANE Select	NP_001104595.1:p.Leu256=
NM_015075.2:c.153G>A	NP_055890.1:p.Leu51=