Canonical Allele Identifier: CA516428952

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53248870-C-T
• MyVariant Identifiers: chrX:g.53278052C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53248870C>T , CM000685.2:g.53248870C>T	GRCh38
NC_000023.10:g.53278052C>T , CM000685.1:g.53278052C>T	GRCh37
NC_000023.9:g.53294777C>T	NCBI36
NG_021296.1:g.77471G>A
NG_021296.2:g.77481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2469G>A	ENSP00000516672.1:p.Lys823=
ENST00000638521.1:c.262G>A
ENST00000640694.1:c.2310G>A	ENSP00000492403.1:p.Lys770=
ENST00000642864.1:c.2310G>A MANE Select	ENSP00000495726.1:p.Lys770=
ENST00000674510.1:c.2310G>A	ENSP00000502054.1:p.Lys770=
ENST00000675719.1:c.2280G>A	ENSP00000501927.1:p.Lys760=
ENST00000375365.2:c.1695G>A	ENSP00000364514.2:p.Lys565=
ENST00000396435.7:c.2310G>A	ENSP00000379712.3:p.Lys770=
NM_001111125.2:c.2310G>A	NP_001104595.1:p.Lys770=
NM_015075.1:c.1695G>A	NP_055890.1:p.Lys565=
XM_006724579.2:c.2406G>A	XP_006724642.1:p.Lys802=
XM_006724580.2:c.1695G>A	XP_006724643.1:p.Lys565=
XM_006724581.2:c.2406G>A	XP_006724644.1:p.Lys802=
XM_006724582.2:c.2406G>A	XP_006724645.1:p.Lys802=
XM_006724583.2:c.2406G>A	XP_006724646.1:p.Lys802=
XM_006724584.2:c.2406G>A	XP_006724647.1:p.Lys802=
XM_011530772.1:c.1632G>A	XP_011529074.1:p.Lys544=
XM_011530773.1:c.1599G>A	XP_011529075.1:p.Lys533=
XM_011530774.1:c.2406G>A	XP_011529076.1:p.Lys802=
XM_011530775.1:c.2406G>A	XP_011529077.1:p.Lys802=
XM_011530776.1:c.2406G>A	XP_011529078.1:p.Lys802=
XM_011530777.1:c.2406G>A	XP_011529079.1:p.Lys802=
XR_938365.1:n.2633G>A
XM_006724579.3:c.2406G>A	XP_006724642.1:p.Lys802=
XM_006724580.3:c.1695G>A	XP_006724643.1:p.Lys565=
XM_006724581.4:c.2406G>A	XP_006724644.1:p.Lys802=
XM_006724582.4:c.2406G>A	XP_006724645.1:p.Lys802=
XM_006724583.4:c.2406G>A	XP_006724646.1:p.Lys802=
XM_006724584.3:c.2406G>A	XP_006724647.1:p.Lys802=
XM_011530773.2:c.1599G>A	XP_011529075.1:p.Lys533=
XM_011530774.3:c.2406G>A	XP_011529076.1:p.Lys802=
XM_011530776.2:c.2406G>A	XP_011529078.1:p.Lys802=
XM_011530777.2:c.2406G>A	XP_011529079.1:p.Lys802=
XM_017029359.2:c.2280G>A	XP_016884848.1:p.Lys760=
XM_017029360.1:c.1812G>A	XP_016884849.1:p.Lys604=
XR_938365.2:n.2627G>A
NM_001111125.3:c.2310G>A MANE Select	NP_001104595.1:p.Lys770=
NM_015075.2:c.1695G>A	NP_055890.1:p.Lys565=