Canonical Allele Identifier: CA16621444
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421878
ClinVar RCV Id: RCV000477973
dbSNP Id: rs1064795421
MyVariant Identifiers: chrX:g.53277955T>C (hg19) chrX:g.53248773T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53248773T>C , CM000685.2:g.53248773T>C GRCh38
NC_000023.10:g.53277955T>C , CM000685.1:g.53277955T>C GRCh37
NC_000023.9:g.53294680T>C NCBI36
NG_021296.1:g.77568A>G
NG_021296.2:g.77578A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.2566A>G ENSP00000516672.1:p.Ile856Val
ENST00000638521.1:c.359A>G
ENST00000640694.1:c.2407A>G ENSP00000492403.1:p.Ile803Val
ENST00000642864.1:c.2407A>G MANE Select ENSP00000495726.1:p.Ile803Val
ENST00000674510.1:c.2407A>G ENSP00000502054.1:p.Ile803Val
ENST00000675719.1:c.2377A>G ENSP00000501927.1:p.Ile793Val
ENST00000375365.2:c.1792A>G ENSP00000364514.2:p.Ile598Val
ENST00000396435.7:c.2407A>G ENSP00000379712.3:p.Ile803Val
NM_001111125.2:c.2407A>G NP_001104595.1:p.Ile803Val
NM_015075.1:c.1792A>G NP_055890.1:p.Ile598Val
XM_006724579.2:c.2503A>G XP_006724642.1:p.Ile835Val
XM_006724580.2:c.1792A>G XP_006724643.1:p.Ile598Val
XM_006724581.2:c.2503A>G XP_006724644.1:p.Ile835Val
XM_006724582.2:c.2503A>G XP_006724645.1:p.Ile835Val
XM_006724583.2:c.2503A>G XP_006724646.1:p.Ile835Val
XM_006724584.2:c.2503A>G XP_006724647.1:p.Ile835Val
XM_011530772.1:c.1729A>G XP_011529074.1:p.Ile577Val
XM_011530773.1:c.1696A>G XP_011529075.1:p.Ile566Val
XM_011530774.1:c.2503A>G XP_011529076.1:p.Ile835Val
XM_011530775.1:c.2503A>G XP_011529077.1:p.Ile835Val
XM_011530776.1:c.2503A>G XP_011529078.1:p.Ile835Val
XM_011530777.1:c.2503A>G XP_011529079.1:p.Ile835Val
XR_938365.1:n.2730A>G
XM_006724579.3:c.2503A>G XP_006724642.1:p.Ile835Val
XM_006724580.3:c.1792A>G XP_006724643.1:p.Ile598Val
XM_006724581.4:c.2503A>G XP_006724644.1:p.Ile835Val
XM_006724582.4:c.2503A>G XP_006724645.1:p.Ile835Val
XM_006724583.4:c.2503A>G XP_006724646.1:p.Ile835Val
XM_006724584.3:c.2503A>G XP_006724647.1:p.Ile835Val
XM_011530773.2:c.1696A>G XP_011529075.1:p.Ile566Val
XM_011530774.3:c.2503A>G XP_011529076.1:p.Ile835Val
XM_011530776.2:c.2503A>G XP_011529078.1:p.Ile835Val
XM_011530777.2:c.2503A>G XP_011529079.1:p.Ile835Val
XM_017029359.2:c.2377A>G XP_016884848.1:p.Ile793Val
XM_017029360.1:c.1909A>G XP_016884849.1:p.Ile637Val
XR_938365.2:n.2724A>G
NM_001111125.3:c.2407A>G MANE Select NP_001104595.1:p.Ile803Val
NM_015075.2:c.1792A>G NP_055890.1:p.Ile598Val
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