{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA46435294",
  "communityStandardTitle": [
    "NM_022437.3(ABCG8):c.322+550G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44074000G>A?assembly=hg19",
        "id": "chr2:g.44074000G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43846861G>A?assembly=hg38",
        "id": "chr2:g.43846861G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4953023",
        "rs": 4953023
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44074000-G-A?dataset=gnomad_r2_1",
        "id": "2-44074000-G-A",
        "variant": "2:44074000 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43846861-G-A?dataset=gnomad_r3",
        "id": "2-43846861-G-A",
        "variant": "2:43846861 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43846861-G-A?dataset=gnomad_r4",
        "id": "2-43846861-G-A",
        "variant": "2:43846861 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 43846861,
          "referenceAllele": "G",
          "start": 43846860
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43846861G>A",
        "CM000664.2:g.43846861G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 44074000,
          "referenceAllele": "G",
          "start": 44073999
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44074000G>A",
        "CM000664.1:g.44074000G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 43927504,
          "referenceAllele": "G",
          "start": 43927503
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43927504G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12898,
          "referenceAllele": "G",
          "start": 12897
        }
      ],
      "hgvs": [
        "NG_008884.1:g.12898G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19920,
          "referenceAllele": "G",
          "start": 19919
        }
      ],
      "hgvs": [
        "NG_008884.2:g.19920G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.4:c.322+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:n.322+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.322+550G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.322+550G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:n.322+550G>A"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:n.322+550G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1329,
          "referenceAllele": "G",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000643284.1:n.1329G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 979,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000644611.1:c.334+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495423.1:n.334+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.2:c.322+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:n.322+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.2:c.322+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:n.322+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 411,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_005264483.2:c.322+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264540.1:n.322+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 824,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.1:c.334+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:n.334+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 825,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 825,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.1:c.334+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:n.334+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2102,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 2102,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533031.1:c.106+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531333.1:n.106+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 824,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.1:n.824+550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.1:c.322+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:n.322+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 979,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.2:c.334+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:n.334+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 824,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.2:c.334+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:n.334+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 838,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.838+550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 838,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.838+550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.3:c.322+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:n.322+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.322+550G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.322+550G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:n.322+550G>A"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:n.322+550G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 550,
          "referenceAllele": "G",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.2:c.322+550G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:n.322+550G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690462"
    }
  ],
  "type": "nucleotide"
}