Canonical Allele Identifier: CA413148779

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 810615
• ClinVar RCV Id: RCV000999447
• dbSNP Id: rs1602268590
• MyVariant Identifiers: chrX:g.53270986G>A (hg19) ; chrX:g.53241804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53241804G>A , CM000685.2:g.53241804G>A	GRCh38
NC_000023.10:g.53270986G>A , CM000685.1:g.53270986G>A	GRCh37
NC_000023.9:g.53287711G>A	NCBI36
NG_021296.1:g.84537C>T
NG_021296.2:g.84547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3154C>T	ENSP00000516672.1:p.Leu1052Phe
ENST00000638521.1:c.947C>T
ENST00000638869.1:c.456C>T
ENST00000639642.1:c.285C>T
ENST00000640005.1:c.58C>T	ENSP00000491293.1:p.Leu20Phe
ENST00000640694.1:c.2995C>T	ENSP00000492403.1:p.Leu999Phe
ENST00000642864.1:c.2995C>T MANE Select	ENSP00000495726.1:p.Leu999Phe
ENST00000674510.1:c.2995C>T	ENSP00000502054.1:p.Leu999Phe
ENST00000674761.1:n.1302C>T
ENST00000675719.1:c.2965C>T	ENSP00000501927.1:p.Leu989Phe
ENST00000375365.2:c.2380C>T	ENSP00000364514.2:p.Leu794Phe
ENST00000396435.7:c.2995C>T	ENSP00000379712.3:p.Leu999Phe
NM_001111125.2:c.2995C>T	NP_001104595.1:p.Leu999Phe
NM_015075.1:c.2380C>T	NP_055890.1:p.Leu794Phe
XM_006724579.2:c.3091C>T	XP_006724642.1:p.Leu1031Phe
XM_006724580.2:c.2380C>T	XP_006724643.1:p.Leu794Phe
XM_006724581.2:c.3091C>T	XP_006724644.1:p.Leu1031Phe
XM_006724582.2:c.3091C>T	XP_006724645.1:p.Leu1031Phe
XM_006724583.2:c.3091C>T	XP_006724646.1:p.Leu1031Phe
XM_006724584.2:c.3091C>T	XP_006724647.1:p.Leu1031Phe
XM_011530772.1:c.2317C>T	XP_011529074.1:p.Leu773Phe
XM_011530773.1:c.2284C>T	XP_011529075.1:p.Leu762Phe
XM_011530774.1:c.3091C>T	XP_011529076.1:p.Leu1031Phe
XM_011530775.1:c.3091C>T	XP_011529077.1:p.Leu1031Phe
XM_011530776.1:c.3091C>T	XP_011529078.1:p.Leu1031Phe
XM_011530777.1:c.3091C>T	XP_011529079.1:p.Leu1031Phe
XR_938365.1:n.3318C>T
XM_006724579.3:c.3091C>T	XP_006724642.1:p.Leu1031Phe
XM_006724580.3:c.2380C>T	XP_006724643.1:p.Leu794Phe
XM_006724581.4:c.3091C>T	XP_006724644.1:p.Leu1031Phe
XM_006724582.4:c.3091C>T	XP_006724645.1:p.Leu1031Phe
XM_006724583.4:c.3091C>T	XP_006724646.1:p.Leu1031Phe
XM_006724584.3:c.3091C>T	XP_006724647.1:p.Leu1031Phe
XM_011530773.2:c.2284C>T	XP_011529075.1:p.Leu762Phe
XM_011530774.3:c.3091C>T	XP_011529076.1:p.Leu1031Phe
XM_011530776.2:c.3091C>T	XP_011529078.1:p.Leu1031Phe
XM_011530777.2:c.3091C>T	XP_011529079.1:p.Leu1031Phe
XM_017029359.2:c.2965C>T	XP_016884848.1:p.Leu989Phe
XM_017029360.1:c.2497C>T	XP_016884849.1:p.Leu833Phe
XR_938365.2:n.3312C>T
NM_001111125.3:c.2995C>T MANE Select	NP_001104595.1:p.Leu999Phe
NM_015075.2:c.2380C>T	NP_055890.1:p.Leu794Phe