{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1636850",
  "communityStandardTitle": [
    "NM_022437.3(ABCG8):c.2T>C (p.Met1Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1669257[alleleid]",
        "alleleId": 1669257,
        "preferredName": "NM_022437.3(ABCG8):c.2T>C (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1677567",
        "RCV": [
          "RCV002224309",
          "RCV002466278"
        ],
        "variationId": 1677567
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44066194-T-C",
        "id": "2-44066194-T-C",
        "variant": "2:44066194 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44066194T>C?assembly=hg19",
        "id": "chr2:g.44066194T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43839055T>C?assembly=hg38",
        "id": "chr2:g.43839055T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/538699999",
        "rs": 538699999
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44066194-T-C?dataset=gnomad_r2_1",
        "id": "2-44066194-T-C",
        "variant": "2:44066194 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43839055-T-C?dataset=gnomad_r3",
        "id": "2-43839055-T-C",
        "variant": "2:43839055 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43839055-T-C?dataset=gnomad_r4",
        "id": "2-43839055-T-C",
        "variant": "2:43839055 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 43839055,
          "referenceAllele": "T",
          "start": 43839054
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43839055T>C",
        "CM000664.2:g.43839055T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 44066194,
          "referenceAllele": "T",
          "start": 44066193
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44066194T>C",
        "CM000664.1:g.44066194T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 43919698,
          "referenceAllele": "T",
          "start": 43919697
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43919698T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4765,
          "referenceAllele": "A",
          "start": 4764
        }
      ],
      "hgvs": [
        "NG_008883.1:g.4765A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5092,
          "referenceAllele": "T",
          "start": 5091
        }
      ],
      "hgvs": [
        "NG_008884.1:g.5092T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12114,
          "referenceAllele": "T",
          "start": 12113
        }
      ],
      "hgvs": [
        "NG_008884.2:g.12114T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 85,
          "referenceAllele": "T",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.4:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000272286.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Met1Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "endIntronDirection": "-",
          "endIntronOffset": 5451,
          "referenceAllele": "T",
          "start": 520,
          "startIntronDirection": "-",
          "startIntronOffset": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000643284.1:n.521-5452T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 720,
          "endIntronDirection": "-",
          "endIntronOffset": 5451,
          "referenceAllele": "T",
          "start": 720,
          "startIntronDirection": "-",
          "startIntronOffset": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000644611.1:c.76-5452T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495423.1:n.76-5452T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 92,
          "referenceAllele": "T",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000272286.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282523",
      "coordinates": [
        {
          "allele": "C",
          "end": 92,
          "referenceAllele": "T",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Met1Thr",
        "hgvsWellDefined": "NP_071882.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 91,
          "referenceAllele": "T",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_005264483.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264540.1:p.Met1Thr",
        "hgvsWellDefined": "XP_005264540.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 5451,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.1:c.76-5452T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:n.76-5452T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "endIntronDirection": "-",
          "endIntronOffset": 5451,
          "referenceAllele": "T",
          "start": 566,
          "startIntronDirection": "-",
          "startIntronOffset": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.1:c.76-5452T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:n.76-5452T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1843,
          "endIntronDirection": "-",
          "endIntronOffset": 5451,
          "referenceAllele": "T",
          "start": 1843,
          "startIntronDirection": "-",
          "startIntronOffset": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533031.1:c.-153-5452T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531333.1:n.-153-5452T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 5451,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.1:n.566-5452T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052222",
      "coordinates": [
        {
          "allele": "C",
          "end": 92,
          "referenceAllele": "T",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001344250.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 720,
          "endIntronDirection": "-",
          "endIntronOffset": 5451,
          "referenceAllele": "T",
          "start": 720,
          "startIntronDirection": "-",
          "startIntronOffset": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.2:c.76-5452T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:n.76-5452T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 5451,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.2:c.76-5452T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:n.76-5452T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 5451,
          "referenceAllele": "T",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.580-5452T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 5451,
          "referenceAllele": "T",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.580-5452T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282523",
      "coordinates": [
        {
          "allele": "C",
          "end": 85,
          "referenceAllele": "T",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.3:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Met1Thr",
        "hgvsWellDefined": "NP_071882.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Met1Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052222",
      "coordinates": [
        {
          "allele": "C",
          "end": 85,
          "referenceAllele": "T",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001344250.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690462"
    }
  ],
  "type": "nucleotide"
}