{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7770172",
  "communityStandardTitle": [
    "NM_000517.6(HBA2):c.307A>C (p.Ser103Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1321214[alleleid]",
        "alleleId": 1321214,
        "preferredName": "NM_000517.6(HBA2):c.307A>C (p.Ser103Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1330535",
        "RCV": [
          "RCV001811709"
        ],
        "variationId": 1330535
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-223477-A-C",
        "id": "16-223477-A-C",
        "variant": "16:223477 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.223477A>C?assembly=hg19",
        "id": "chr16:g.223477A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.173478A>C?assembly=hg38",
        "id": "chr16:g.173478A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41321052",
        "rs": 41321052
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-223477-A-C?dataset=gnomad_r2_1",
        "id": "16-223477-A-C",
        "variant": "16:223477 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-173478-A-C?dataset=gnomad_r4",
        "id": "16-173478-A-C",
        "variant": "16:173478 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 173478,
          "referenceAllele": "A",
          "start": 173477
        }
      ],
      "hgvs": [
        "NC_000016.10:g.173478A>C",
        "CM000678.2:g.173478A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 223477,
          "referenceAllele": "A",
          "start": 223476
        }
      ],
      "hgvs": [
        "NC_000016.9:g.223477A>C",
        "CM000678.1:g.223477A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 163477,
          "referenceAllele": "A",
          "start": 163476
        }
      ],
      "hgvs": [
        "NC_000016.8:g.163477A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34341,
          "referenceAllele": "A",
          "start": 34340
        }
      ],
      "hgvs": [
        "NG_000006.1:g.34341A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1828,
          "referenceAllele": "A",
          "start": 1827
        }
      ],
      "hgvs": [
        "NG_059186.1:g.1828A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5632,
          "referenceAllele": "A",
          "start": 5631
        }
      ],
      "hgvs": [
        "NG_059271.1:g.5632A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 344,
          "referenceAllele": "A",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.11:c.307A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Ser103Arg",
        "hgvsWellDefined": "ENSP00000251595.6:p.Ser103Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.307A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.307A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Ser103Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Ser103Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.10:c.307A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Ser103Arg",
        "hgvsWellDefined": "ENSP00000251595.6:p.Ser103Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "referenceAllele": "A",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000397806.1:c.211A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380908.1:p.Ser71Arg",
        "hgvsWellDefined": "ENSP00000380908.1:p.Ser71Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "referenceAllele": "A",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000482565.1:n.443A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA065723",
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.4:c.307A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Ser103Arg",
        "hgvsWellDefined": "NP_000508.1:p.Ser103Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA065723",
      "coordinates": [
        {
          "allele": "C",
          "end": 344,
          "referenceAllele": "A",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.6:c.307A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Ser103Arg",
        "hgvsWellDefined": "NP_000508.1:p.Ser103Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.307A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.307A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Ser103Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Ser103Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}