{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117701",
  "communityStandardTitle": [
    "NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20743[alleleid]",
        "alleleId": 20743,
        "preferredName": "NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5704",
        "RCV": [
          "RCV000006058",
          "RCV001366653",
          "RCV002504752"
        ],
        "variationId": 5704
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-47580228-C-T",
        "id": "6-47580228-C-T",
        "variant": "6:47580228 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.47580228C>T?assembly=hg19",
        "id": "chr6:g.47580228C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.47612492C>T?assembly=hg38",
        "id": "chr6:g.47612492C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606710",
        "rs": 267606710
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-47580228-C-T?dataset=gnomad_r2_1",
        "id": "6-47580228-C-T",
        "variant": "6:47580228 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-47612492-C-T?dataset=gnomad_r3",
        "id": "6-47612492-C-T",
        "variant": "6:47612492 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-47612492-C-T?dataset=gnomad_r4",
        "id": "6-47612492-C-T",
        "variant": "6:47612492 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 47612492,
          "referenceAllele": "C",
          "start": 47612491
        }
      ],
      "hgvs": [
        "NC_000006.12:g.47612492C>T",
        "CM000668.2:g.47612492C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 47580228,
          "referenceAllele": "C",
          "start": 47580227
        }
      ],
      "hgvs": [
        "NC_000006.11:g.47580228C>T",
        "CM000668.1:g.47580228C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 47688187,
          "referenceAllele": "C",
          "start": 47688186
        }
      ],
      "hgvs": [
        "NC_000006.10:g.47688187C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139704,
          "referenceAllele": "C",
          "start": 139703
        }
      ],
      "hgvs": [
        "NG_008878.1:g.139704C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001273"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014258",
      "geneNCBI_id": 23607,
      "geneSymbol": "CD2AP",
      "hgvs": [
        "ENST00000359314.5:c.1834C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352264.5:p.Arg612Ter",
        "hgvsWellDefined": "ENSP00000352264.5:p.Arg612_Ser639delinsLysAspLeuGluGluGluLysThrMetArgSerAsnLeuGluMetGluIleGluLysLeuLysLysAlaValLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359314.5:c.1834C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012120.3:c.1834C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352264.5:p.Arg612Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036252.1:p.Arg612Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA117702",
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014258",
      "geneNCBI_id": 23607,
      "geneSymbol": "CD2AP",
      "hgvs": [
        "NM_012120.2:c.1834C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036252.1:p.Arg612Ter",
        "hgvsWellDefined": "NP_036252.1:p.Arg612_Ser639delinsLysAspLeuGluGluGluLysThrMetArgSerAsnLeuGluMetGluIleGluLysLeuLysLysAlaValLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2321,
          "referenceAllele": "C",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014258",
      "geneNCBI_id": 23607,
      "geneSymbol": "CD2AP",
      "hgvs": [
        "XM_005248976.1:c.1822C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249033.1:p.Arg608Ter",
        "hgvsWellDefined": "XP_005249033.1:p.Arg608_Ser635delinsLysAspLeuGluGluGluLysThrMetArgSerAsnLeuGluMetGluIleGluLysLeuLysLysAlaValLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "endIntronDirection": "+",
          "endIntronOffset": 3188,
          "referenceAllele": "C",
          "start": 2313,
          "startIntronDirection": "+",
          "startIntronOffset": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014258",
      "geneNCBI_id": 23607,
      "geneSymbol": "CD2AP",
      "hgvs": [
        "XM_005248977.2:c.1814+3188C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249034.1:n.1814+3188C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "referenceAllele": "C",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014258",
      "geneNCBI_id": 23607,
      "geneSymbol": "CD2AP",
      "hgvs": [
        "XM_011514449.1:c.1687C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512751.1:p.Arg563Ter",
        "hgvsWellDefined": "XP_011512751.1:p.Arg563_Ser590delinsLysAspLeuGluGluGluLysThrMetArgSerAsnLeuGluMetGluIleGluLysLeuLysLysAlaValLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1912,
          "referenceAllele": "C",
          "start": 1911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014258",
      "geneNCBI_id": 23607,
      "geneSymbol": "CD2AP",
      "hgvs": [
        "XM_011514449.2:c.1687C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512751.1:p.Arg563Ter",
        "hgvsWellDefined": "XP_011512751.1:p.Arg563_Ser590delinsLysAspLeuGluGluGluLysThrMetArgSerAsnLeuGluMetGluIleGluLysLeuLysLysAlaValLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117702",
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014258",
      "geneNCBI_id": 23607,
      "geneSymbol": "CD2AP",
      "hgvs": [
        "NM_012120.3:c.1834C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036252.1:p.Arg612Ter",
        "hgvsWellDefined": "NP_036252.1:p.Arg612_Ser639delinsLysAspLeuGluGluGluLysThrMetArgSerAsnLeuGluMetGluIleGluLysLeuLysLysAlaValLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667904",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359314.5:c.1834C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012120.3:c.1834C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352264.5:p.Arg612Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036252.1:p.Arg612Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}