{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379264459",
  "communityStandardTitle": [
    "NM_000184.3(HBG2):c.167T>C (p.Met56Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5275670A>G?assembly=hg19",
        "id": "chr11:g.5275670A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5254440A>G?assembly=hg38",
        "id": "chr11:g.5254440A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34915311",
        "rs": 34915311
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5254440-A-G?dataset=gnomad_r4",
        "id": "11-5254440-A-G",
        "variant": "11:5254440 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5254440,
          "referenceAllele": "A",
          "start": 5254439
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5254440A>G",
        "CM000673.2:g.5254440A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5275670,
          "referenceAllele": "A",
          "start": 5275669
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5275670A>G",
        "CM000673.1:g.5275670A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5232246,
          "referenceAllele": "A",
          "start": 5232245
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5232246A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43176,
          "referenceAllele": "T",
          "start": 43175
        }
      ],
      "hgvs": [
        "NG_000007.3:g.43176T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "referenceAllele": "T",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000336906.6:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338082.4:p.Met56Thr",
        "hgvsWellDefined": "ENSP00000338082.4:p.Met56Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747620",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336906.6:c.167T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000184.3:c.167T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338082.4:p.Met56Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000175.1:p.Met56Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "referenceAllele": "T",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380252.6:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369602.2:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000369602.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1713,
          "referenceAllele": "T",
          "start": 1712
        }
      ],
      "hgvs": [
        "ENST00000380259.7:c.1713T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369609.3:n.1713T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 222,
          "referenceAllele": "T",
          "start": 221
        }
      ],
      "hgvs": [
        "ENST00000642908.1:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495346.1:p.Met56Thr",
        "hgvsWellDefined": "ENSP00000495346.1:p.Met56Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 222,
          "referenceAllele": "T",
          "start": 221
        }
      ],
      "hgvs": [
        "ENST00000647543.1:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496470.1:p.Met56Thr",
        "hgvsWellDefined": "ENSP00000496470.1:p.Met56Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "T",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000336906.4:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338082.4:p.Met56Thr",
        "hgvsWellDefined": "ENSP00000338082.4:p.Met56Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "referenceAllele": "T",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380252.5:c.137T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369602.1:p.Met46Thr",
        "hgvsWellDefined": "ENSP00000369602.1:p.Met46Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "referenceAllele": "T",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380259.6:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369609.2:p.Met56Thr",
        "hgvsWellDefined": "ENSP00000369609.2:p.Met56Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 142,
          "referenceAllele": "T",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000444587.1:c.*36T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488218.1:n.*36T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "referenceAllele": "T",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000620888.4:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479637.1:p.Met56Thr",
        "hgvsWellDefined": "ENSP00000479637.1:p.Met56Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 188,
          "referenceAllele": "A",
          "start": 187
        }
      ],
      "hgvs": [
        "ENST00000624109.1:c.188A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485458.1:p.His63Arg",
        "hgvsWellDefined": "ENSP00000485458.1:p.His63Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077699068",
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "referenceAllele": "T",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "NM_000184.2:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000175.1:p.Met56Thr",
        "hgvsWellDefined": "NP_000175.1:p.Met56Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077699068",
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "referenceAllele": "T",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "NM_000184.3:c.167T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000175.1:p.Met56Thr",
        "hgvsWellDefined": "NP_000175.1:p.Met56Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336906.6:c.167T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000184.3:c.167T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338082.4:p.Met56Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000175.1:p.Met56Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}