{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2200880890",
  "communityStandardTitle": [
    "NM_000517.6(HBA2):c.301-1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587776827",
        "rs": 587776827
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 173471,
          "referenceAllele": "G",
          "start": 173470
        }
      ],
      "hgvs": [
        "NC_000016.10:g.173471G=",
        "CM000678.2:g.173471G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 223470,
          "referenceAllele": "G",
          "start": 223469
        }
      ],
      "hgvs": [
        "NC_000016.9:g.223470G=",
        "CM000678.1:g.223470G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 163470,
          "referenceAllele": "G",
          "start": 163469
        }
      ],
      "hgvs": [
        "NC_000016.8:g.163470G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34334,
          "referenceAllele": "G",
          "start": 34333
        }
      ],
      "hgvs": [
        "NG_000006.1:g.34334G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1821,
          "referenceAllele": "G",
          "start": 1820
        }
      ],
      "hgvs": [
        "NG_059186.1:g.1821G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5625,
          "referenceAllele": "G",
          "start": 5624
        }
      ],
      "hgvs": [
        "NG_059271.1:g.5625G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 337,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 337,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.11:c.301-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:n.301-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.301-1G="
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.301-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:n.301-1G="
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:n.301-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 366,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.10:c.301-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:n.301-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 274,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000397806.1:c.205-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380908.1:n.205-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000482565.1:n.437-1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 366,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.4:c.301-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:n.301-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 337,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 337,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.6:c.301-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:n.301-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.301-1G="
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.301-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:n.301-1G="
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:n.301-1G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}