{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA566291238",
  "communityStandardTitle": [
    "NM_016356.5(DCDC2):c.1326+6T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3511011[alleleid]",
        "alleleId": 3511011,
        "preferredName": "NM_016356.5(DCDC2):c.1326+6T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3351787",
        "RCV": [
          "RCV004748294"
        ],
        "variationId": 3351787
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24178552A>C?assembly=hg19",
        "id": "chr6:g.24178552A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24178324A>C?assembly=hg38",
        "id": "chr6:g.24178324A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/530158986",
        "rs": 530158986
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-24178552-A-C?dataset=gnomad_r2_1",
        "id": "6-24178552-A-C",
        "variant": "6:24178552 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-24178324-A-C?dataset=gnomad_r4",
        "id": "6-24178324-A-C",
        "variant": "6:24178324 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24178324,
          "referenceAllele": "A",
          "start": 24178323
        }
      ],
      "hgvs": [
        "NC_000006.12:g.24178324A>C",
        "CM000668.2:g.24178324A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24178552,
          "referenceAllele": "A",
          "start": 24178551
        }
      ],
      "hgvs": [
        "NC_000006.11:g.24178552A>C",
        "CM000668.1:g.24178552A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24286531,
          "referenceAllele": "A",
          "start": 24286530
        }
      ],
      "hgvs": [
        "NC_000006.10:g.24286531A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184729,
          "referenceAllele": "T",
          "start": 184728
        }
      ],
      "hgvs": [
        "NG_012829.1:g.184729T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209969,
          "referenceAllele": "T",
          "start": 209968
        }
      ],
      "hgvs": [
        "NG_012829.2:g.209969T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1635,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1635,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378454.8:c.1326+6T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367715.3:n.1326+6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378454.8:c.1326+6T>G"
          },
          "RefSeq": {
            "hgvs": "NM_016356.5:c.1326+6T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367715.3:n.1326+6T>G"
          },
          "RefSeq": {
            "hgvs": "NP_057440.2:n.1326+6T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 605,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 605,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378450.6:c.585+6T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367711.3:n.585+6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1628,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1628,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378454.7:c.1326+6T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367715.3:n.1326+6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1535,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1535,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_001195610.1:c.1326+6T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182539.1:n.1326+6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1628,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1628,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_016356.4:c.1326+6T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057440.2:n.1326+6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1635,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1635,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_016356.5:c.1326+6T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057440.2:n.1326+6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669100",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378454.8:c.1326+6T>G"
          },
          "RefSeq": {
            "hgvs": "NM_016356.5:c.1326+6T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367715.3:n.1326+6T>G"
          },
          "RefSeq": {
            "hgvs": "NP_057440.2:n.1326+6T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1535,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1535,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_001195610.2:c.1326+6T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182539.1:n.1326+6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713826"
    }
  ],
  "type": "nucleotide"
}