BCAT2 branched chain amino acid transaminase 2

Information
Symbol
BCAT2
Type
protein-coding
Description
branched chain amino acid transaminase 2
Entrez Gene ID
587
Genome
hg19
Position
chr19:49,298,321-49,314,286
Genome
hg38
Position
chr19:48,795,064-48,811,029
MIM
113530 OMIM
HGNC
HGNC:977 HGNC
Ensembl
ENSG00000105552 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 2
Benign 0 22
Likely benign 0 70
Conflicting classifications of pathogenicity 0 2
not provided 0 2
Uncertain significance 0 110
Ranking
ClinVar
0
0
24
182
4
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 BCAM
SYNONYM BCATM
SYNONYM BCT2
SYNONYM HVLI
SYNONYM PP18
MIM 113530 OMIM
HGNC HGNC:977 HGNC
Ensembl ENSG00000105552 Ensembl
AllianceGenome HGNC:977
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000597011.5 hg38 chr19 48,795,110 48,810,916 15,807
ENST00000316273.11 hg38 chr19 48,795,064 48,811,029 15,966
ENST00000598162.5 hg38 chr19 48,796,259 48,811,027 14,769
ENST00000545387.6 hg38 chr19 48,795,062 48,811,012 15,951
ENST00000402551.5 hg38 chr19 48,795,065 48,811,027 15,963
ENST00000599246.5 hg38 chr19 48,795,865 48,811,029 15,165
ENST00000545387.6 hg19 chr19 49,298,319 49,314,269 15,951
ENST00000316273.11 hg19 chr19 49,298,321 49,314,286 15,966
ENST00000402551.5 hg19 chr19 49,298,322 49,314,284 15,963
ENST00000597011.5 hg19 chr19 49,298,367 49,314,173 15,807
ENST00000599246.5 hg19 chr19 49,299,122 49,314,286 15,165
ENST00000598162.5 hg19 chr19 49,299,516 49,314,284 14,769
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