{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1949577648",
  "communityStandardTitle": [
    "NM_000184.3(HBG2):c.79G= (p.Glu27=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35654328",
        "rs": 35654328
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5254650,
          "referenceAllele": "C",
          "start": 5254649
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5254650C=",
        "CM000673.2:g.5254650C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5275880,
          "referenceAllele": "C",
          "start": 5275879
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5275880C=",
        "CM000673.1:g.5275880C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5232456,
          "referenceAllele": "C",
          "start": 5232455
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5232456C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42966,
          "referenceAllele": "G",
          "start": 42965
        }
      ],
      "hgvs": [
        "NG_000007.3:g.42966G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000336906.6:c.79G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338082.4:p.Glu27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747620",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336906.6:c.79G="
          },
          "RefSeq": {
            "hgvs": "NM_000184.3:c.79G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338082.4:p.Glu27="
          },
          "RefSeq": {
            "hgvs": "NP_000175.1:p.Glu27="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 255,
          "endIntronDirection": "-",
          "endIntronOffset": 135,
          "referenceAllele": "G",
          "start": 255,
          "startIntronDirection": "-",
          "startIntronOffset": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380252.6:c.-73-136G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369602.2:n.-73-136G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1625,
          "referenceAllele": "G",
          "start": 1624
        }
      ],
      "hgvs": [
        "ENST00000380259.7:c.1625G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369609.3:n.1625G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "hgvs": [
        "ENST00000642908.1:c.79G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495346.1:p.Glu27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "hgvs": [
        "ENST00000647543.1:c.79G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496470.1:p.Glu27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 162,
          "referenceAllele": "G",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000336906.4:c.79G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338082.4:p.Glu27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 255,
          "endIntronDirection": "-",
          "endIntronOffset": 135,
          "referenceAllele": "G",
          "start": 255,
          "startIntronDirection": "-",
          "startIntronOffset": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380252.5:c.63-136G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369602.1:n.63-136G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1320,
          "referenceAllele": "G",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380259.6:c.79G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369609.2:p.Glu27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67,
          "endIntronDirection": "+",
          "endIntronOffset": 25,
          "referenceAllele": "G",
          "start": 67,
          "startIntronDirection": "+",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000444587.1:c.54+25G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488218.1:n.54+25G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000620888.4:c.79G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479637.1:p.Glu27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "hgvs": [
        "ENST00000624109.1:c.279C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485458.1:p.Phe93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077699810",
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "NM_000184.2:c.79G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000175.1:p.Glu27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077699810",
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "NM_000184.3:c.79G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000175.1:p.Glu27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336906.6:c.79G="
          },
          "RefSeq": {
            "hgvs": "NM_000184.3:c.79G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338082.4:p.Glu27="
          },
          "RefSeq": {
            "hgvs": "NP_000175.1:p.Glu27="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}