{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2200880678",
  "communityStandardTitle": [
    "NM_000517.6(HBA2):c.167T= (p.Val56=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63749934",
        "rs": 63749934
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 173196,
          "referenceAllele": "T",
          "start": 173195
        }
      ],
      "hgvs": [
        "NC_000016.10:g.173196T=",
        "CM000678.2:g.173196T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 223195,
          "referenceAllele": "T",
          "start": 223194
        }
      ],
      "hgvs": [
        "NC_000016.9:g.223195T=",
        "CM000678.1:g.223195T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 163195,
          "referenceAllele": "T",
          "start": 163194
        }
      ],
      "hgvs": [
        "NC_000016.8:g.163195T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34059,
          "referenceAllele": "T",
          "start": 34058
        }
      ],
      "hgvs": [
        "NG_000006.1:g.34059T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "T",
          "start": 1545
        }
      ],
      "hgvs": [
        "NG_059186.1:g.1546T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5350,
          "referenceAllele": "T",
          "start": 5349
        }
      ],
      "hgvs": [
        "NG_059271.1:g.5350T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.11:c.167T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Val56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.167T="
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.167T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Val56="
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Val56="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 233,
          "referenceAllele": "T",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.10:c.167T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Val56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "referenceAllele": "T",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000397806.1:c.71T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380908.1:p.Val24="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000482565.1:n.303T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "T",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000484216.1:n.136T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082811472",
      "coordinates": [
        {
          "allele": "T",
          "end": 233,
          "referenceAllele": "T",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.4:c.167T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Val56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082811472",
      "coordinates": [
        {
          "allele": "T",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.6:c.167T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Val56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.167T="
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.167T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Val56="
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Val56="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}