{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124542",
  "communityStandardTitle": [
    "NM_000184.3(HBG2):c.190C>T (p.His64Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30020[alleleid]",
        "alleleId": 30020,
        "preferredName": "NM_000184.3(HBG2):c.190C>T (p.His64Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14981",
        "RCV": [
          "RCV000016121"
        ],
        "variationId": 14981
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5275647G>A?assembly=hg19",
        "id": "chr11:g.5275647G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5254417G>A?assembly=hg38",
        "id": "chr11:g.5254417G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34474104",
        "rs": 34474104
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 5254417,
          "referenceAllele": "G",
          "start": 5254416
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5254417G>A",
        "CM000673.2:g.5254417G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 5275647,
          "referenceAllele": "G",
          "start": 5275646
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5275647G>A",
        "CM000673.1:g.5275647G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 5232223,
          "referenceAllele": "G",
          "start": 5232222
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5232223G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43199,
          "referenceAllele": "C",
          "start": 43198
        }
      ],
      "hgvs": [
        "NG_000007.3:g.43199C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000336906.6:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338082.4:p.His64Tyr",
        "hgvsWellDefined": "ENSP00000338082.4:p.His64Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747620",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336906.6:c.190C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000184.3:c.190C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338082.4:p.His64Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000175.1:p.His64Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380252.6:c.25C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369602.2:p.His9Tyr",
        "hgvsWellDefined": "ENSP00000369602.2:p.His9Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "C",
          "start": 1735
        }
      ],
      "hgvs": [
        "ENST00000380259.7:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369609.3:n.1736C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "hgvs": [
        "ENST00000642908.1:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495346.1:p.His64Tyr",
        "hgvsWellDefined": "ENSP00000495346.1:p.His64Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "hgvs": [
        "ENST00000647543.1:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496470.1:p.His64Tyr",
        "hgvsWellDefined": "ENSP00000496470.1:p.His64Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000336906.4:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338082.4:p.His64Tyr",
        "hgvsWellDefined": "ENSP00000338082.4:p.His64Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380252.5:c.160C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369602.1:p.His54Tyr",
        "hgvsWellDefined": "ENSP00000369602.1:p.His54Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1431,
          "referenceAllele": "C",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380259.6:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369609.2:p.His64Tyr",
        "hgvsWellDefined": "ENSP00000369609.2:p.His64Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000444587.1:c.*59C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488218.1:n.*59C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000620888.4:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479637.1:p.His64Tyr",
        "hgvsWellDefined": "ENSP00000479637.1:p.His64Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "G",
          "start": 164
        }
      ],
      "hgvs": [
        "ENST00000624109.1:c.165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485458.1:p.Met55Ile",
        "hgvsWellDefined": "ENSP00000485458.1:p.Met55Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102211",
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "NM_000184.2:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000175.1:p.His64Tyr",
        "hgvsWellDefined": "NP_000175.1:p.His64Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102211",
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "NM_000184.3:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000175.1:p.His64Tyr",
        "hgvsWellDefined": "NP_000175.1:p.His64Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336906.6:c.190C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000184.3:c.190C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338082.4:p.His64Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000175.1:p.His64Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}