IRAG2 inositol 1,4,5-triphosphate receptor associated 2

Information
Symbol
IRAG2
Type
protein-coding
Description
inositol 1,4,5-triphosphate receptor associated 2
Entrez Gene ID
4033
Genome
hg19
Position
chr12:25,205,232-25,261,215
Genome
hg38
Position
chr12:25,052,298-25,108,281
MIM
602003 OMIM
HGNC
HGNC:6690 HGNC
Ensembl
ENSG00000118308 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
42
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM JAW1
SYNONYM LRMP
MIM 602003 OMIM
HGNC HGNC:6690 HGNC
Ensembl ENSG00000118308 Ensembl
AllianceGenome HGNC:6690
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000354454.7 hg38 chr12 25,052,512 25,108,235 55,724
ENST00000556887.6 hg38 chr12 25,052,706 25,108,335 55,630
ENST00000547044.5 hg38 chr12 25,052,740 25,108,248 55,509
ENST00000636465.1 hg38 chr12 25,004,342 25,108,235 103,894
ENST00000557489.6 hg38 chr12 25,052,298 25,108,281 55,984
ENST00000548766.5 hg38 chr12 25,052,642 25,108,205 55,564
ENST00000636465.1 hg19 chr12 25,157,276 25,261,169 103,894
ENST00000354454.7 hg19 chr12 25,205,446 25,261,169 55,724
ENST00000548766.5 hg19 chr12 25,205,576 25,261,139 55,564
ENST00000547044.5 hg19 chr12 25,205,674 25,261,182 55,509
ENST00000556887.6 hg19 chr12 25,205,640 25,261,269 55,630
ENST00000557489.6 hg19 chr12 25,205,232 25,261,215 55,984
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