Canonical Allele Identifier: CA16621440
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422479
ClinVar RCV Id: RCV000479533
dbSNP Id: rs1064795806
MyVariant Identifiers: chrX:g.53264075G>A (hg19) chrX:g.53234893G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53234893G>A , CM000685.2:g.53234893G>A GRCh38
NC_000023.10:g.53264075G>A , CM000685.1:g.53264075G>A GRCh37
NC_000023.9:g.53280800G>A NCBI36
NG_021296.1:g.91448C>T
NG_021296.2:g.91458C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.3952C>T ENSP00000516672.1:p.Gln1318Ter
ENST00000638521.1:c.1453+890C>T
ENST00000638869.1:c.962+890C>T
ENST00000639796.1:c.316+1429C>T ENSP00000492252.1:n.316+1429C>T
ENST00000640005.1:c.514+1429C>T ENSP00000491293.1:n.514+1429C>T
ENST00000640694.1:c.*278C>T ENSP00000492403.1:n.*278C>T
ENST00000642864.1:c.3793C>T MANE Select ENSP00000495726.1:p.Gln1265Ter
ENST00000674510.1:c.3793C>T ENSP00000502054.1:p.Gln1265Ter
ENST00000675719.1:c.3763C>T ENSP00000501927.1:p.Gln1255Ter
ENST00000375365.2:c.*278C>T ENSP00000364514.2:n.*278C>T
ENST00000396435.7:c.3793C>T ENSP00000379712.3:p.Gln1265Ter
NM_001111125.2:c.3793C>T NP_001104595.1:p.Gln1265Ter
NM_015075.1:c.*278C>T NP_055890.1:n.*278C>T
XM_006724579.2:c.3889C>T XP_006724642.1:p.Gln1297Ter
XM_006724580.2:c.3178C>T XP_006724643.1:p.Gln1060Ter
XM_006724581.2:c.3597+890C>T XP_006724644.1:n.3597+890C>T
XM_006724582.2:c.3597+890C>T XP_006724645.1:n.3597+890C>T
XM_006724583.2:c.3547+1429C>T XP_006724646.1:n.3547+1429C>T
XM_006724584.2:c.*278C>T XP_006724647.1:n.*278C>T
XM_011530772.1:c.3115C>T XP_011529074.1:p.Gln1039Ter
XM_011530773.1:c.3082C>T XP_011529075.1:p.Gln1028Ter
XM_011530775.1:c.3547+1429C>T XP_011529077.1:n.3547+1429C>T
XM_006724579.3:c.3889C>T XP_006724642.1:p.Gln1297Ter
XM_006724580.3:c.3178C>T XP_006724643.1:p.Gln1060Ter
XM_006724581.4:c.3597+890C>T XP_006724644.1:n.3597+890C>T
XM_006724582.4:c.3597+890C>T XP_006724645.1:n.3597+890C>T
XM_006724583.4:c.3547+1429C>T XP_006724646.1:n.3547+1429C>T
XM_006724584.3:c.*278C>T XP_006724647.1:n.*278C>T
XM_011530773.2:c.3082C>T XP_011529075.1:p.Gln1028Ter
XM_017029359.2:c.3763C>T XP_016884848.1:p.Gln1255Ter
XM_017029360.1:c.3295C>T XP_016884849.1:p.Gln1099Ter
NM_001111125.3:c.3793C>T MANE Select NP_001104595.1:p.Gln1265Ter
NM_015075.2:c.*278C>T NP_055890.1:n.*278C>T
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