{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602376",
  "communityStandardTitle": [
    "NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=28748",
        "active": true,
        "id": "COSM28748"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362772[alleleid]",
        "alleleId": 362772,
        "preferredName": "NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375893",
        "RCV": [
          "RCV000418324",
          "RCV000425839",
          "RCV000424342",
          "RCV000426812",
          "RCV000424724",
          "RCV000431514",
          "RCV000432144",
          "RCV000440287",
          "RCV000423616",
          "RCV000435988",
          "RCV000445051",
          "RCV000442342",
          "RCV000430064",
          "RCV000434628",
          "RCV000437066",
          "RCV000441330",
          "RCV003884519"
        ],
        "variationId": 375893
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.209113113G>T?assembly=hg19",
        "id": "chr2:g.209113113G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.208248389G>T?assembly=hg38",
        "id": "chr2:g.208248389G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913499",
        "rs": 121913499
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-208248389-G-T?dataset=gnomad_r4",
        "id": "2-208248389-G-T",
        "variant": "2:208248389 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 208248389,
          "referenceAllele": "G",
          "start": 208248388
        }
      ],
      "hgvs": [
        "NC_000002.12:g.208248389G>T",
        "CM000664.2:g.208248389G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 209113113,
          "referenceAllele": "G",
          "start": 209113112
        }
      ],
      "hgvs": [
        "NC_000002.11:g.209113113G>T",
        "CM000664.1:g.209113113G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 208821358,
          "referenceAllele": "G",
          "start": 208821357
        }
      ],
      "hgvs": [
        "NC_000002.10:g.208821358G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22686,
          "referenceAllele": "C",
          "start": 22685
        }
      ],
      "hgvs": [
        "NG_023319.2:g.22686C>A",
        "LRG_610:g.22686C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003792"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000345146.7:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260985.2:p.Arg132Ser",
        "hgvsWellDefined": "ENSP00000260985.2:p.Arg132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345146.7:c.394C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005896.4:c.394C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260985.2:p.Arg132Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005887.2:p.Arg132Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000345146.6:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260985.2:p.Arg132Ser",
        "hgvsWellDefined": "ENSP00000260985.2:p.Arg132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "C",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000415282.5:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391075.1:p.Arg132Ser",
        "hgvsWellDefined": "ENSP00000391075.1:p.Arg132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000415913.5:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390265.1:p.Arg132Ser",
        "hgvsWellDefined": "ENSP00000390265.1:p.Arg132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000446179.5:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410513.1:p.Arg132Ser",
        "hgvsWellDefined": "ENSP00000410513.1:p.Arg132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000462386.5:n.607C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826643629",
      "coordinates": [
        {
          "allele": "A",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "NM_001282386.1:c.394C>A",
        "LRG_610t3:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269315.1:p.Arg132Ser",
        "hgvsWellDefined": "NP_001269315.1:p.Arg132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826643999",
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "NM_001282387.1:c.394C>A",
        "LRG_610t2:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269316.1:p.Arg132Ser",
        "hgvsWellDefined": "NP_001269316.1:p.Arg132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645464161",
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "NM_005896.3:c.394C>A",
        "LRG_610t1:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005887.2:p.Arg132Ser",
        "hgvsWellDefined": "NP_005887.2:p.Arg132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645464161",
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "NM_005896.4:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005887.2:p.Arg132Ser",
        "hgvsWellDefined": "NP_005887.2:p.Arg132Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345146.7:c.394C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005896.4:c.394C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260985.2:p.Arg132Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005887.2:p.Arg132Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}