CERS2 ceramide synthase 2

Information
Symbol
CERS2
Type
protein-coding
Description
ceramide synthase 2
Entrez Gene ID
29956
Genome
hg19
Position
chr1:150,937,662-150,947,311
Genome
hg38
Position
chr1:150,965,186-150,974,835
MIM
606920 OMIM
HGNC
HGNC:14076 HGNC
Ensembl
ENSG00000143418 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 2
not provided 1 0
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
40
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 L3
SYNONYM LASS2
SYNONYM SP260
SYNONYM TMSG1
MIM 606920 OMIM
HGNC HGNC:14076 HGNC
Ensembl ENSG00000143418 Ensembl
AllianceGenome HGNC:14076
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000271688.10 hg38 chr1 150,965,173 150,975,003 9,831
ENST00000561294.5 hg38 chr1 150,963,670 150,969,112 5,443
ENST00000368954.10 hg38 chr1 150,965,186 150,974,835 9,650
ENST00000561294.5 hg19 chr1 150,936,146 150,941,588 5,443
ENST00000271688.10 hg19 chr1 150,937,649 150,947,479 9,831
ENST00000368954.10 hg19 chr1 150,937,662 150,947,311 9,650
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