NMNAT2 nicotinamide nucleotide adenylyltransferase 2

Information
Symbol
NMNAT2
Type
protein-coding
Description
nicotinamide nucleotide adenylyltransferase 2
Entrez Gene ID
23057
Genome
hg19
Position
chr1:183,217,372-183,387,515
Genome
hg38
Position
chr1:183,248,237-183,418,380
MIM
608701 OMIM
HGNC
HGNC:16789 HGNC
Ensembl
ENSG00000157064 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
22
2
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 :
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 C1orf15
SYNONYM PNAT2
MIM 608701 OMIM
HGNC HGNC:16789 HGNC
Ensembl ENSG00000157064 Ensembl
AllianceGenome HGNC:16789
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000294868.8 hg38 chr1 183,248,237 183,304,874 56,638
ENST00000287713.7 hg38 chr1 183,248,237 183,418,380 170,144
ENST00000294868.8 hg19 chr1 183,217,372 183,274,009 56,638
ENST00000287713.7 hg19 chr1 183,217,372 183,387,515 170,144
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