{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2832592554",
  "communityStandardTitle": [
    "NM_003227.4(TFR2):c.1469T= (p.Leu490=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338886",
        "rs": 80338886
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 100628228,
          "referenceAllele": "A",
          "start": 100628227
        }
      ],
      "hgvs": [
        "NC_000007.14:g.100628228A=",
        "CM000669.2:g.100628228A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 100225851,
          "referenceAllele": "A",
          "start": 100225850
        }
      ],
      "hgvs": [
        "NC_000007.13:g.100225851A=",
        "CM000669.1:g.100225851A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 100063787,
          "referenceAllele": "A",
          "start": 100063786
        }
      ],
      "hgvs": [
        "NC_000007.12:g.100063787A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18323,
          "referenceAllele": "T",
          "start": 18322
        }
      ],
      "hgvs": [
        "NG_007989.1:g.18323T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000756"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "T",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000223051.8:c.1469T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223051.3:p.Leu490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223051.8:c.1469T="
          },
          "RefSeq": {
            "hgvs": "NM_003227.4:c.1469T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223051.3:p.Leu490="
          },
          "RefSeq": {
            "hgvs": "NP_003218.2:p.Leu490="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "T",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000223051.7:c.1469T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223051.3:p.Leu490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000431692.5:c.*144T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413905.1:n.*144T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "T",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000462090.5:n.333T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "referenceAllele": "T",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000462107.1:c.1469T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420525.1:p.Leu490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1217,
          "referenceAllele": "T",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000465294.5:n.1217T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "T",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000473374.5:n.542T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "T",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000473963.1:n.498T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1090,
          "referenceAllele": "T",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000476304.5:n.1090T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "T",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000490084.5:c.822T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826288003",
      "coordinates": [
        {
          "allele": "T",
          "end": 1090,
          "referenceAllele": "T",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_001206855.1:c.956T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193784.1:p.Leu319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829424281",
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "T",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_003227.3:c.1469T="
      ],
      "proteinEffect": {
        "hgvs": "NP_003218.2:p.Leu490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1801,
          "referenceAllele": "T",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_005250553.3:c.1469T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250610.1:p.Leu490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1801,
          "referenceAllele": "T",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_005250554.3:c.1469T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250611.1:p.Leu490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 2927,
          "referenceAllele": "A",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 2928
        }
      ],
      "hgvs": [
        "XR_927814.1:n.434-2928A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826288003",
      "coordinates": [
        {
          "allele": "T",
          "end": 1090,
          "referenceAllele": "T",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_001206855.2:c.956T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193784.1:p.Leu319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1816,
          "referenceAllele": "T",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_005250553.4:c.1469T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250610.1:p.Leu490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "T",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_017012573.1:c.1469T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868062.1:p.Leu490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829424281",
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "T",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_003227.4:c.1469T="
      ],
      "proteinEffect": {
        "hgvs": "NP_003218.2:p.Leu490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665940",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223051.8:c.1469T="
          },
          "RefSeq": {
            "hgvs": "NM_003227.4:c.1469T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223051.3:p.Leu490="
          },
          "RefSeq": {
            "hgvs": "NP_003218.2:p.Leu490="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826288003",
      "coordinates": [
        {
          "allele": "T",
          "end": 1090,
          "referenceAllele": "T",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_001206855.3:c.956T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193784.1:p.Leu319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714238"
    }
  ],
  "type": "nucleotide"
}