{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA348827",
  "communityStandardTitle": [
    "NM_017950.4(CCDC40):c.3181-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=222747[alleleid]",
        "alleleId": 222747,
        "preferredName": "NM_017950.4(CCDC40):c.3181-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219643",
        "RCV": [
          "RCV000204611"
        ],
        "variationId": 219643
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78073324A>G?assembly=hg19",
        "id": "chr17:g.78073324A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80099525A>G?assembly=hg38",
        "id": "chr17:g.80099525A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762664261",
        "rs": 762664261
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 80099525,
          "referenceAllele": "A",
          "start": 80099524
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80099525A>G",
        "CM000679.2:g.80099525A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 78073324,
          "referenceAllele": "A",
          "start": 78073323
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78073324A>G",
        "CM000679.1:g.78073324A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75687919,
          "referenceAllele": "A",
          "start": 75687918
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75687919A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2970,
          "referenceAllele": "A",
          "start": 2969
        }
      ],
      "hgvs": [
        "NG_009822.1:g.2970A>G",
        "LRG_673:g.2970A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67894,
          "referenceAllele": "A",
          "start": 67893
        }
      ],
      "hgvs": [
        "NG_029761.1:g.67894A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004637"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3201,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3201,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.9:c.3181-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:n.3181-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753657",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.3181-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.3181-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:n.3181-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:n.3181-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3207,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3207,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.8:c.3181-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:n.3181-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2717,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2717,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000574799.5:n.2718-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3211,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3211,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.3:c.3181-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:n.3181-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3248,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3248,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.1:c.3091-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:n.3091-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2180,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2180,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.1:c.2002-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:n.2002-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3248,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3248,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.3:c.3091-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:n.3091-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2180,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2180,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.3:c.2002-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:n.2002-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3774,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3774,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_024450821.1:c.3091-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306589.1:n.3091-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3298,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3298,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.2:n.3299-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3201,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3201,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.4:c.3181-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:n.3181-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.3181-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.3181-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:n.3181-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:n.3181-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}