ERGIC2 ERGIC and golgi 2

Information
Symbol
ERGIC2
Type
protein-coding
Description
ERGIC and golgi 2
Entrez Gene ID
51290
Genome
hg19
Position
chr12:29,490,285-29,534,105
Genome
hg38
Position
chr12:29,337,352-29,381,172
MIM
612236 OMIM
HGNC
HGNC:30208 HGNC
Ensembl
ENSG00000087502 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 1 0
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
34
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 CDA14
SYNONYM Erv41
SYNONYM PTX1
SYNONYM cd002
MIM 612236 OMIM
HGNC HGNC:30208 HGNC
Ensembl ENSG00000087502 Ensembl
AllianceGenome HGNC:30208
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000360150.9 hg38 chr12 29,337,352 29,381,172 43,821
ENST00000360150.9 hg19 chr12 29,490,285 29,534,105 43,821
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