Canonical Allele Identifier: CA16043640
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374231
ClinVar RCV Id: RCV000414794
dbSNP Id: rs1057518993
MyVariant Identifiers: chrX:g.53272549G>A (hg19) chrX:g.53243367G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53243367G>A , CM000685.2:g.53243367G>A GRCh38
NC_000023.10:g.53272549G>A , CM000685.1:g.53272549G>A GRCh37
NC_000023.9:g.53289274G>A NCBI36
NG_021296.1:g.82974C>T
NG_021296.2:g.82984C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.3013C>T ENSP00000516672.1:p.Gln1005Ter
ENST00000638521.1:c.806C>T
ENST00000638869.1:c.315C>T
ENST00000639642.1:c.144C>T
ENST00000640694.1:c.2854C>T ENSP00000492403.1:p.Gln952Ter
ENST00000642864.1:c.2854C>T MANE Select ENSP00000495726.1:p.Gln952Ter
ENST00000674510.1:c.2854C>T ENSP00000502054.1:p.Gln952Ter
ENST00000674761.1:n.605C>T
ENST00000675719.1:c.2824C>T ENSP00000501927.1:p.Gln942Ter
ENST00000375365.2:c.2239C>T ENSP00000364514.2:p.Gln747Ter
ENST00000396435.7:c.2854C>T ENSP00000379712.3:p.Gln952Ter
NM_001111125.2:c.2854C>T NP_001104595.1:p.Gln952Ter
NM_015075.1:c.2239C>T NP_055890.1:p.Gln747Ter
XM_006724579.2:c.2950C>T XP_006724642.1:p.Gln984Ter
XM_006724580.2:c.2239C>T XP_006724643.1:p.Gln747Ter
XM_006724581.2:c.2950C>T XP_006724644.1:p.Gln984Ter
XM_006724582.2:c.2950C>T XP_006724645.1:p.Gln984Ter
XM_006724583.2:c.2950C>T XP_006724646.1:p.Gln984Ter
XM_006724584.2:c.2950C>T XP_006724647.1:p.Gln984Ter
XM_011530772.1:c.2176C>T XP_011529074.1:p.Gln726Ter
XM_011530773.1:c.2143C>T XP_011529075.1:p.Gln715Ter
XM_011530774.1:c.2950C>T XP_011529076.1:p.Gln984Ter
XM_011530775.1:c.2950C>T XP_011529077.1:p.Gln984Ter
XM_011530776.1:c.2950C>T XP_011529078.1:p.Gln984Ter
XM_011530777.1:c.2950C>T XP_011529079.1:p.Gln984Ter
XR_938365.1:n.3177C>T
XM_006724579.3:c.2950C>T XP_006724642.1:p.Gln984Ter
XM_006724580.3:c.2239C>T XP_006724643.1:p.Gln747Ter
XM_006724581.4:c.2950C>T XP_006724644.1:p.Gln984Ter
XM_006724582.4:c.2950C>T XP_006724645.1:p.Gln984Ter
XM_006724583.4:c.2950C>T XP_006724646.1:p.Gln984Ter
XM_006724584.3:c.2950C>T XP_006724647.1:p.Gln984Ter
XM_011530773.2:c.2143C>T XP_011529075.1:p.Gln715Ter
XM_011530774.3:c.2950C>T XP_011529076.1:p.Gln984Ter
XM_011530776.2:c.2950C>T XP_011529078.1:p.Gln984Ter
XM_011530777.2:c.2950C>T XP_011529079.1:p.Gln984Ter
XM_017029359.2:c.2824C>T XP_016884848.1:p.Gln942Ter
XM_017029360.1:c.2356C>T XP_016884849.1:p.Gln786Ter
XR_938365.2:n.3171C>T
NM_001111125.3:c.2854C>T MANE Select NP_001104595.1:p.Gln952Ter
NM_015075.2:c.2239C>T NP_055890.1:p.Gln747Ter
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