{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253364",
  "communityStandardTitle": [
    "NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20009[alleleid]",
        "alleleId": 20009,
        "preferredName": "NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4970",
        "RCV": [
          "RCV000005258",
          "RCV000727975",
          "RCV003407279"
        ],
        "variationId": 4970
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44079831-G-A",
        "id": "2-44079831-G-A",
        "variant": "2:44079831 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44079831G>A?assembly=hg19",
        "id": "chr2:g.44079831G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43852692G>A?assembly=hg38",
        "id": "chr2:g.43852692G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852990",
        "rs": 137852990
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44079831-G-A?dataset=gnomad_r2_1",
        "id": "2-44079831-G-A",
        "variant": "2:44079831 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43852692-G-A?dataset=gnomad_r3",
        "id": "2-43852692-G-A",
        "variant": "2:43852692 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43852692-G-A?dataset=gnomad_r4",
        "id": "2-43852692-G-A",
        "variant": "2:43852692 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 43852692,
          "referenceAllele": "G",
          "start": 43852691
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43852692G>A",
        "CM000664.2:g.43852692G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 44079831,
          "referenceAllele": "G",
          "start": 44079830
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44079831G>A",
        "CM000664.1:g.44079831G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 43933335,
          "referenceAllele": "G",
          "start": 43933334
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43933335G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18729,
          "referenceAllele": "G",
          "start": 18728
        }
      ],
      "hgvs": [
        "NG_008884.1:g.18729G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25751,
          "referenceAllele": "G",
          "start": 25750
        }
      ],
      "hgvs": [
        "NG_008884.2:g.25751G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.4:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Arg263Gln",
        "hgvsWellDefined": "ENSP00000272286.2:p.Arg263Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.788G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.788G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Arg263Gln"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Arg263Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000644611.1:c.800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495423.1:p.Arg267Gln",
        "hgvsWellDefined": "ENSP00000495423.1:p.Arg267Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.2:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Arg263Gln",
        "hgvsWellDefined": "ENSP00000272286.2:p.Arg263Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110991",
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.2:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Arg263Gln",
        "hgvsWellDefined": "NP_071882.1:p.Arg263Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_005264483.2:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264540.1:p.Arg263Gln",
        "hgvsWellDefined": "XP_005264540.1:p.Arg263Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.1:c.800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Arg267Gln",
        "hgvsWellDefined": "XP_011531331.1:p.Arg267Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1291,
          "referenceAllele": "G",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.1:c.800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Arg267Gln",
        "hgvsWellDefined": "XP_011531332.1:p.Arg267Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2568,
          "referenceAllele": "G",
          "start": 2567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533031.1:c.572G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531333.1:p.Arg191Gln",
        "hgvsWellDefined": "XP_011531333.1:p.Arg191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.1:n.1290G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052565",
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.1:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Arg263Gln",
        "hgvsWellDefined": "NP_001344250.1:p.Arg263Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.2:c.800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Arg267Gln",
        "hgvsWellDefined": "XP_011531331.1:p.Arg267Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.2:c.800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Arg267Gln",
        "hgvsWellDefined": "XP_011531332.1:p.Arg267Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.1304G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.1304G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110991",
      "coordinates": [
        {
          "allele": "A",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.3:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Arg263Gln",
        "hgvsWellDefined": "NP_071882.1:p.Arg263Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.788G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.788G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Arg263Gln"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Arg263Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052565",
      "coordinates": [
        {
          "allele": "A",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.2:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Arg263Gln",
        "hgvsWellDefined": "NP_001344250.1:p.Arg263Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690462"
    }
  ],
  "type": "nucleotide"
}