{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2229310369",
  "communityStandardTitle": [
    "NM_000196.4(HSD11B2):c.817G= (p.Val273=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140385822",
        "rs": 140385822
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 67436602,
          "referenceAllele": "G",
          "start": 67436601
        }
      ],
      "hgvs": [
        "NC_000016.10:g.67436602G=",
        "CM000678.2:g.67436602G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 67470505,
          "referenceAllele": "G",
          "start": 67470504
        }
      ],
      "hgvs": [
        "NC_000016.9:g.67470505G=",
        "CM000678.1:g.67470505G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 66028006,
          "referenceAllele": "G",
          "start": 66028005
        }
      ],
      "hgvs": [
        "NC_000016.8:g.66028006G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49585,
          "referenceAllele": "C",
          "start": 49584
        }
      ],
      "hgvs": [
        "NG_011482.1:g.49585C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10470,
          "referenceAllele": "G",
          "start": 10469
        }
      ],
      "hgvs": [
        "NG_016549.1:g.10470G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003213"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005209",
      "geneNCBI_id": 3291,
      "geneSymbol": "HSD11B2",
      "hgvs": [
        "ENST00000326152.6:c.817G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316786.5:p.Val273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326152.6:c.817G="
          },
          "RefSeq": {
            "hgvs": "NM_000196.4:c.817G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316786.5:p.Val273="
          },
          "RefSeq": {
            "hgvs": "NP_000187.3:p.Val273="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005209",
      "geneNCBI_id": 3291,
      "geneSymbol": "HSD11B2",
      "hgvs": [
        "ENST00000326152.5:c.817G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316786.5:p.Val273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082817170",
      "coordinates": [
        {
          "allele": "G",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005209",
      "geneNCBI_id": 3291,
      "geneSymbol": "HSD11B2",
      "hgvs": [
        "NM_000196.3:c.817G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000187.3:p.Val273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082817170",
      "coordinates": [
        {
          "allele": "G",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005209",
      "geneNCBI_id": 3291,
      "geneSymbol": "HSD11B2",
      "hgvs": [
        "NM_000196.4:c.817G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000187.3:p.Val273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662351",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326152.6:c.817G="
          },
          "RefSeq": {
            "hgvs": "NM_000196.4:c.817G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316786.5:p.Val273="
          },
          "RefSeq": {
            "hgvs": "NP_000187.3:p.Val273="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}