KDELR2 KDEL endoplasmic reticulum protein retention receptor 2

Information
Symbol
KDELR2
Type
protein-coding
Description
KDEL endoplasmic reticulum protein retention receptor 2
Entrez Gene ID
11014
Genome
hg19
Position
chr7:6,500,720-6,523,783
Genome
hg38
Position
chr7:6,461,089-6,484,152
MIM
609024 OMIM
HGNC
HGNC:6305 HGNC
Ensembl
ENSG00000136240 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Benign 0 4
Likely benign 0 4
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
38
12
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 :
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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 ELP-1
SYNONYM ELP1
SYNONYM ERD2.2
SYNONYM OI21
MIM 609024 OMIM
HGNC HGNC:6305 HGNC
Ensembl ENSG00000136240 Ensembl
AllianceGenome HGNC:6305
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000258739.9 hg38 chr7 6,461,089 6,484,152 23,064
ENST00000490996.1 hg38 chr7 6,462,872 6,484,057 21,186
ENST00000258739.9 hg19 chr7 6,500,720 6,523,783 23,064
ENST00000490996.1 hg19 chr7 6,502,503 6,523,688 21,186
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