{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1875198799",
  "communityStandardTitle": [
    "NM_001365068.1(ASTN2):c.442+39018G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2226006",
        "rs": 2226006
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 117375479,
          "referenceAllele": "C",
          "start": 117375478
        }
      ],
      "hgvs": [
        "NC_000009.12:g.117375479C=",
        "CM000671.2:g.117375479C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 120137758,
          "referenceAllele": "C",
          "start": 120137757
        }
      ],
      "hgvs": [
        "NC_000009.11:g.120137758C=",
        "CM000671.1:g.120137758C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 119177579,
          "referenceAllele": "C",
          "start": 119177578
        }
      ],
      "hgvs": [
        "NC_000009.10:g.119177579C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44560,
          "referenceAllele": "G",
          "start": 44559
        }
      ],
      "hgvs": [
        "NG_021409.1:g.44560G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44579,
          "referenceAllele": "G",
          "start": 44578
        }
      ],
      "hgvs": [
        "NG_021409.2:g.44579G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616256"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 39018,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 39017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000313400.9:c.442+39018G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314038.4:n.442+39018G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313400.9:c.442+39018G="
          },
          "RefSeq": {
            "hgvs": "NM_001365068.1:c.442+39018G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314038.4:n.442+39018G="
          },
          "RefSeq": {
            "hgvs": "NP_001351997.1:n.442+39018G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "endIntronDirection": "+",
          "endIntronOffset": 39018,
          "referenceAllele": "G",
          "start": 543,
          "startIntronDirection": "+",
          "startIntronOffset": 39017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000361477.8:c.442+39018G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355116.5:n.442+39018G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "endIntronDirection": "+",
          "endIntronOffset": 39018,
          "referenceAllele": "G",
          "start": 543,
          "startIntronDirection": "+",
          "startIntronOffset": 39017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000313400.8:c.442+39018G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314038.4:n.442+39018G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "endIntronDirection": "+",
          "endIntronOffset": 39018,
          "referenceAllele": "G",
          "start": 574,
          "startIntronDirection": "+",
          "startIntronOffset": 39017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000361209.6:c.442+39018G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354504.2:n.442+39018G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "endIntronDirection": "+",
          "endIntronOffset": 39018,
          "referenceAllele": "G",
          "start": 543,
          "startIntronDirection": "+",
          "startIntronOffset": 39017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000361477.7:c.-2250+39018G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355116.4:n.-2250+39018G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "endIntronDirection": "+",
          "endIntronOffset": 39018,
          "referenceAllele": "G",
          "start": 543,
          "startIntronDirection": "+",
          "startIntronOffset": 39017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "NM_014010.4:c.442+39018G="
      ],
      "proteinEffect": {
        "hgvs": "NP_054729.3:n.442+39018G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 39018,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 39017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "NM_001365068.1:c.442+39018G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351997.1:n.442+39018G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524020",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313400.9:c.442+39018G="
          },
          "RefSeq": {
            "hgvs": "NM_001365068.1:c.442+39018G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314038.4:n.442+39018G="
          },
          "RefSeq": {
            "hgvs": "NP_001351997.1:n.442+39018G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 39018,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 39017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "NM_001365069.1:c.442+39018G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351998.1:n.442+39018G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 39018,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 39017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "NM_014010.5:c.442+39018G="
      ],
      "proteinEffect": {
        "hgvs": "NP_054729.3:n.442+39018G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697170"
    }
  ],
  "type": "nucleotide"
}