{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9378204",
  "communityStandardTitle": [
    "NM_001370087.1(FFAR2):c.652C>T (p.Arg218Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2208386[alleleid]",
        "alleleId": 2208386,
        "preferredName": "NM_001370087.1(FFAR2):c.652C>T (p.Arg218Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2224969",
        "RCV": [
          "RCV004088816"
        ],
        "variationId": 2224969
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-35941268-C-T",
        "id": "19-35941268-C-T",
        "variant": "19:35941268 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35941268C>T?assembly=hg19",
        "id": "chr19:g.35941268C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35450366C>T?assembly=hg38",
        "id": "chr19:g.35450366C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750044621",
        "rs": 750044621
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-35941268-C-T?dataset=gnomad_r2_1",
        "id": "19-35941268-C-T",
        "variant": "19:35941268 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-35450366-C-T?dataset=gnomad_r3",
        "id": "19-35450366-C-T",
        "variant": "19:35450366 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-35450366-C-T?dataset=gnomad_r4",
        "id": "19-35450366-C-T",
        "variant": "19:35450366 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 35450366,
          "referenceAllele": "C",
          "start": 35450365
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35450366C>T",
        "CM000681.2:g.35450366C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 35941268,
          "referenceAllele": "C",
          "start": 35941267
        }
      ],
      "hgvs": [
        "NC_000019.9:g.35941268C>T",
        "CM000681.1:g.35941268C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 40633108,
          "referenceAllele": "C",
          "start": 40633107
        }
      ],
      "hgvs": [
        "NC_000019.8:g.40633108C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004501",
      "geneNCBI_id": 2867,
      "geneSymbol": "FFAR2",
      "hgvs": [
        "ENST00000599180.3:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473159.1:p.Arg218Cys",
        "hgvsWellDefined": "ENSP00000473159.1:p.Arg218Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761481",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000599180.3:c.652C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370087.1:c.652C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000473159.1:p.Arg218Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001357016.1:p.Arg218Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004501",
      "geneNCBI_id": 2867,
      "geneSymbol": "FFAR2",
      "hgvs": [
        "ENST00000246549.2:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246549.2:p.Arg218Cys",
        "hgvsWellDefined": "ENSP00000246549.2:p.Arg218Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004501",
      "geneNCBI_id": 2867,
      "geneSymbol": "FFAR2",
      "hgvs": [
        "ENST00000599180.2:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473159.1:p.Arg218Cys",
        "hgvsWellDefined": "ENSP00000473159.1:p.Arg218Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16,
          "endIntronDirection": "-",
          "endIntronOffset": 786,
          "referenceAllele": "C",
          "start": 16,
          "startIntronDirection": "-",
          "startIntronOffset": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004501",
      "geneNCBI_id": 2867,
      "geneSymbol": "FFAR2",
      "hgvs": [
        "ENST00000601590.1:n.17-787C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580322187",
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004501",
      "geneNCBI_id": 2867,
      "geneSymbol": "FFAR2",
      "hgvs": [
        "NM_005306.2:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005297.1:p.Arg218Cys",
        "hgvsWellDefined": "NP_005297.1:p.Arg218Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004501",
      "geneNCBI_id": 2867,
      "geneSymbol": "FFAR2",
      "hgvs": [
        "XM_017026709.1:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882198.1:p.Arg218Cys",
        "hgvsWellDefined": "XP_016882198.1:p.Arg218Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004501",
      "geneNCBI_id": 2867,
      "geneSymbol": "FFAR2",
      "hgvs": [
        "XM_017026710.2:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882199.1:p.Arg218Cys",
        "hgvsWellDefined": "XP_016882199.1:p.Arg218Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004501",
      "geneNCBI_id": 2867,
      "geneSymbol": "FFAR2",
      "hgvs": [
        "XM_017026711.1:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882200.1:p.Arg218Cys",
        "hgvsWellDefined": "XP_016882200.1:p.Arg218Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828375504",
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004501",
      "geneNCBI_id": 2867,
      "geneSymbol": "FFAR2",
      "hgvs": [
        "NM_001370087.1:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357016.1:p.Arg218Cys",
        "hgvsWellDefined": "NP_001357016.1:p.Arg218Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000599180.3:c.652C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370087.1:c.652C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000473159.1:p.Arg218Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001357016.1:p.Arg218Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580322187",
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "C",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004501",
      "geneNCBI_id": 2867,
      "geneSymbol": "FFAR2",
      "hgvs": [
        "NM_005306.3:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005297.1:p.Arg218Cys",
        "hgvsWellDefined": "NP_005297.1:p.Arg218Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696382"
    }
  ],
  "type": "nucleotide"
}