SHMT2 serine hydroxymethyltransferase 2

Information
Symbol
SHMT2
Type
protein-coding
Description
serine hydroxymethyltransferase 2
Entrez Gene ID
6472
Genome
hg19
Position
chr12:57,623,494-57,628,718
Genome
hg38
Position
chr12:57,229,711-57,234,935
MIM
138450 OMIM
HGNC
HGNC:10852 HGNC
Ensembl
ENSG00000182199 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 6
Benign 0 14
Likely benign 0 8
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 62
Ranking
ClinVar
0
0
10
78
10
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 GLYA
SYNONYM HEL-S-51e
SYNONYM NEDCASB
SYNONYM SHMT
SYNONYM mSHMT
MIM 138450 OMIM
HGNC HGNC:10852 HGNC
Ensembl ENSG00000182199 Ensembl
AllianceGenome HGNC:10852
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000414700.7 hg38 chr12 57,230,086 57,234,726 4,641
ENST00000328923.8 hg38 chr12 57,229,711 57,234,935 5,225
ENST00000449049.7 hg38 chr12 57,230,360 57,234,699 4,340
ENST00000553474.5 hg38 chr12 57,230,328 57,234,551 4,224
ENST00000557487.5 hg38 chr12 57,229,711 57,234,726 5,016
ENST00000328923.8 hg19 chr12 57,623,494 57,628,718 5,225
ENST00000414700.7 hg19 chr12 57,623,869 57,628,509 4,641
ENST00000553474.5 hg19 chr12 57,624,111 57,628,334 4,224
ENST00000449049.7 hg19 chr12 57,624,143 57,628,482 4,340
ENST00000557487.5 hg19 chr12 57,623,494 57,628,509 5,016
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