Canonical Allele Identifier: CA413140332

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1718505
• ClinVar RCV Id: RCV002296646
• gnomAD v4: X-53234814-G-A
• MyVariant Identifiers: chrX:g.53263996G>A (hg19) ; chrX:g.53234814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53234814G>A , CM000685.2:g.53234814G>A	GRCh38
NC_000023.10:g.53263996G>A , CM000685.1:g.53263996G>A	GRCh37
NC_000023.9:g.53280721G>A	NCBI36
NG_021296.1:g.91527C>T
NG_021296.2:g.91537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.4031C>T	ENSP00000516672.1:p.Pro1344Leu
ENST00000638521.1:c.1453+969C>T
ENST00000638869.1:c.962+969C>T
ENST00000639796.1:c.316+1508C>T	ENSP00000492252.1:n.316+1508C>T
ENST00000640005.1:c.514+1508C>T	ENSP00000491293.1:n.514+1508C>T
ENST00000640694.1:c.*357C>T	ENSP00000492403.1:n.*357C>T
ENST00000642864.1:c.3872C>T MANE Select	ENSP00000495726.1:p.Pro1291Leu
ENST00000674510.1:c.3872C>T	ENSP00000502054.1:p.Pro1291Leu
ENST00000675719.1:c.3842C>T	ENSP00000501927.1:p.Pro1281Leu
ENST00000375365.2:c.*357C>T	ENSP00000364514.2:n.*357C>T
ENST00000396435.7:c.3872C>T	ENSP00000379712.3:p.Pro1291Leu
NM_001111125.2:c.3872C>T	NP_001104595.1:p.Pro1291Leu
NM_015075.1:c.*357C>T	NP_055890.1:n.*357C>T
XM_006724579.2:c.3968C>T	XP_006724642.1:p.Pro1323Leu
XM_006724580.2:c.3257C>T	XP_006724643.1:p.Pro1086Leu
XM_006724581.2:c.3597+969C>T	XP_006724644.1:n.3597+969C>T
XM_006724582.2:c.3597+969C>T	XP_006724645.1:n.3597+969C>T
XM_006724583.2:c.3547+1508C>T	XP_006724646.1:n.3547+1508C>T
XM_006724584.2:c.*357C>T	XP_006724647.1:n.*357C>T
XM_011530772.1:c.3194C>T	XP_011529074.1:p.Pro1065Leu
XM_011530773.1:c.3161C>T	XP_011529075.1:p.Pro1054Leu
XM_011530775.1:c.3547+1508C>T	XP_011529077.1:n.3547+1508C>T
XM_006724579.3:c.3968C>T	XP_006724642.1:p.Pro1323Leu
XM_006724580.3:c.3257C>T	XP_006724643.1:p.Pro1086Leu
XM_006724581.4:c.3597+969C>T	XP_006724644.1:n.3597+969C>T
XM_006724582.4:c.3597+969C>T	XP_006724645.1:n.3597+969C>T
XM_006724583.4:c.3547+1508C>T	XP_006724646.1:n.3547+1508C>T
XM_006724584.3:c.*357C>T	XP_006724647.1:n.*357C>T
XM_011530773.2:c.3161C>T	XP_011529075.1:p.Pro1054Leu
XM_017029359.2:c.3842C>T	XP_016884848.1:p.Pro1281Leu
XM_017029360.1:c.3374C>T	XP_016884849.1:p.Pro1125Leu
NM_001111125.3:c.3872C>T MANE Select	NP_001104595.1:p.Pro1291Leu
NM_015075.2:c.*357C>T	NP_055890.1:n.*357C>T