{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1221564959",
  "communityStandardTitle": [
    "NM_003238.6(TGFB2):c.896G= (p.Arg299=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057521150",
        "rs": 1057521150
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 218436111,
          "referenceAllele": "G",
          "start": 218436110
        }
      ],
      "hgvs": [
        "NC_000001.11:g.218436111G=",
        "CM000663.2:g.218436111G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 218609453,
          "referenceAllele": "G",
          "start": 218609452
        }
      ],
      "hgvs": [
        "NC_000001.10:g.218609453G=",
        "CM000663.1:g.218609453G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 216676076,
          "referenceAllele": "G",
          "start": 216676075
        }
      ],
      "hgvs": [
        "NC_000001.9:g.216676076G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 95778,
          "referenceAllele": "G",
          "start": 95777
        }
      ],
      "hgvs": [
        "NG_027721.1:g.95778G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 95778,
          "referenceAllele": "G",
          "start": 95777
        }
      ],
      "hgvs": [
        "NG_027721.2:g.95778G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616271"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2262,
          "referenceAllele": "G",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "ENST00000366930.9:c.896G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355897.4:p.Arg299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749883",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366930.9:c.896G="
          },
          "RefSeq": {
            "hgvs": "NM_003238.6:c.896G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355897.4:p.Arg299="
          },
          "RefSeq": {
            "hgvs": "NP_003229.1:p.Arg299="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1447,
          "referenceAllele": "G",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "ENST00000366929.4:c.980G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355896.4:p.Arg327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "ENST00000366930.8:c.896G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355897.4:p.Arg299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "ENST00000479322.1:n.380G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793248",
      "coordinates": [
        {
          "allele": "G",
          "end": 2348,
          "referenceAllele": "G",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_001135599.2:c.980G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129071.1:p.Arg327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829425534",
      "coordinates": [
        {
          "allele": "G",
          "end": 2264,
          "referenceAllele": "G",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.3:c.896G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:p.Arg299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793248",
      "coordinates": [
        {
          "allele": "G",
          "end": 2398,
          "referenceAllele": "G",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_001135599.3:c.980G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129071.1:p.Arg327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829425534",
      "coordinates": [
        {
          "allele": "G",
          "end": 2314,
          "referenceAllele": "G",
          "start": 2313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.4:c.896G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:p.Arg299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "G",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138148.1:n.2199G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2283,
          "referenceAllele": "G",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138149.1:n.2283G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829425534",
      "coordinates": [
        {
          "allele": "G",
          "end": 2262,
          "referenceAllele": "G",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.5:c.896G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:p.Arg299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829425534",
      "coordinates": [
        {
          "allele": "G",
          "end": 2262,
          "referenceAllele": "G",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.6:c.896G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:p.Arg299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695762",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366930.9:c.896G="
          },
          "RefSeq": {
            "hgvs": "NM_003238.6:c.896G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355897.4:p.Arg299="
          },
          "RefSeq": {
            "hgvs": "NP_003229.1:p.Arg299="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793248",
      "coordinates": [
        {
          "allele": "G",
          "end": 2346,
          "referenceAllele": "G",
          "start": 2345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_001135599.4:c.980G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129071.1:p.Arg327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712444"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2147,
          "referenceAllele": "G",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138148.2:n.2147G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2231,
          "referenceAllele": "G",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138149.2:n.2231G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731095"
    }
  ],
  "type": "nucleotide"
}