MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase

Information
Symbol
MTHFD2
Type
protein-coding
Description
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
Entrez Gene ID
10797
Genome
hg19
Position
chr2:74,425,742-74,444,692
Genome
hg38
Position
chr2:74,198,615-74,217,565
MIM
604887 OMIM
HGNC
HGNC:7434 HGNC
Ensembl
ENSG00000065911 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 28
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
[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 NMDMC
MIM 604887 OMIM
HGNC HGNC:7434 HGNC
Ensembl ENSG00000065911 Ensembl
AllianceGenome HGNC:7434
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000679055.1 hg38 chr2 74,198,615 74,215,525 16,911
ENST00000678340.1 hg38 chr2 74,198,615 74,215,414 16,800
ENST00000678684.1 hg38 chr2 74,186,465 74,215,344 28,880
ENST00000677558.1 hg38 chr2 74,212,075 74,215,267 3,193
ENST00000678731.1 hg38 chr2 74,206,394 74,215,571 9,178
ENST00000394053.7 hg38 chr2 74,198,615 74,217,565 18,951
ENST00000409601.1 hg38 chr2 74,198,616 74,215,277 16,662
ENST00000409804.5 hg38 chr2 74,198,610 74,215,298 16,689
ENST00000677170.1 hg38 chr2 74,186,213 74,215,571 29,359
ENST00000677997.1 hg38 chr2 74,186,172 74,215,344 29,173
ENST00000678633.1 hg38 chr2 74,212,075 74,215,282 3,208
ENST00000678623.1 hg38 chr2 74,206,384 74,215,279 8,896
ENST00000677170.1 hg19 chr2 74,413,340 74,442,698 29,359
ENST00000409804.5 hg19 chr2 74,425,737 74,442,425 16,689
ENST00000394053.7 hg19 chr2 74,425,742 74,444,692 18,951
ENST00000409601.1 hg19 chr2 74,425,743 74,442,404 16,662
ENST00000677997.1 hg19 chr2 74,413,299 74,442,471 29,173
ENST00000679055.1 hg19 chr2 74,425,742 74,442,652 16,911
ENST00000678340.1 hg19 chr2 74,425,742 74,442,541 16,800
ENST00000678623.1 hg19 chr2 74,433,511 74,442,406 8,896
ENST00000678684.1 hg19 chr2 74,413,592 74,442,471 28,880
ENST00000678731.1 hg19 chr2 74,433,521 74,442,698 9,178
ENST00000677558.1 hg19 chr2 74,439,202 74,442,394 3,193
ENST00000678633.1 hg19 chr2 74,439,202 74,442,409 3,208
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