{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2493940619",
  "communityStandardTitle": [
    "NM_022436.3(ABCG5):c.229G= (p.Glu77=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119480070",
        "rs": 119480070
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 43837870,
          "referenceAllele": "C",
          "start": 43837869
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43837870C=",
        "CM000664.2:g.43837870C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 44065009,
          "referenceAllele": "C",
          "start": 44065008
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44065009C=",
        "CM000664.1:g.44065009C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 43918513,
          "referenceAllele": "C",
          "start": 43918512
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43918513C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5950,
          "referenceAllele": "G",
          "start": 5949
        }
      ],
      "hgvs": [
        "NG_008883.1:g.5950G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3907,
          "referenceAllele": "C",
          "start": 3906
        }
      ],
      "hgvs": [
        "NG_008884.1:g.3907C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10929,
          "referenceAllele": "C",
          "start": 10928
        }
      ],
      "hgvs": [
        "NG_008884.2:g.10929C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000405322.8:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384513.2:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.229G="
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.229G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:p.Glu77="
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:p.Glu77="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "endIntronDirection": "+",
          "endIntronOffset": 5209,
          "referenceAllele": "C",
          "start": 520,
          "startIntronDirection": "+",
          "startIntronOffset": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000643284.1:n.520+5209C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 720,
          "endIntronDirection": "+",
          "endIntronOffset": 5209,
          "referenceAllele": "C",
          "start": 720,
          "startIntronDirection": "+",
          "startIntronOffset": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000644611.1:c.75+5209C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495423.1:n.75+5209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000644754.1:n.883G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000260645.5:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260645.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000405322.5:c.-15G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384513.1:n.-15G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 996,
          "referenceAllele": "G",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000409962.1:c.-15G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386501.1:n.-15G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000486512.5:c.-15G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430935.1:n.-15G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526776",
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.2:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_005264480.2:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264537.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712073.2:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712136.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "G",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712074.2:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712137.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533024.1:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531326.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533025.1:c.-15G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531327.1:n.-15G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "referenceAllele": "G",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533026.1:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531328.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 996,
          "referenceAllele": "G",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533027.1:c.-49G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531329.1:n.-49G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 5209,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.1:c.75+5209C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:n.75+5209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 5209,
          "referenceAllele": "C",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.1:c.75+5209C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:n.75+5209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1843,
          "endIntronDirection": "-",
          "endIntronOffset": 6636,
          "referenceAllele": "C",
          "start": 1843,
          "startIntronDirection": "-",
          "startIntronOffset": 6637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533031.1:c.-153-6637C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531333.1:n.-153-6637C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 5209,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.1:n.565+5209C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_005264480.4:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264537.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712073.3:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712136.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712074.3:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712137.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533024.2:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531326.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551078"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533025.3:c.-15G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531327.1:n.-15G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533026.2:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531328.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533027.3:c.-49G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531329.1:n.-49G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 720,
          "endIntronDirection": "+",
          "endIntronOffset": 5209,
          "referenceAllele": "C",
          "start": 720,
          "startIntronDirection": "+",
          "startIntronOffset": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.2:c.75+5209C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:n.75+5209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 5209,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.2:c.75+5209C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:n.75+5209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 5209,
          "referenceAllele": "C",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.579+5209C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 5209,
          "referenceAllele": "C",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.579+5209C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526776",
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.3:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:p.Glu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.229G="
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.229G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:p.Glu77="
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:p.Glu77="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}