{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2501012",
  "communityStandardTitle": [
    "NM_014043.4(CHMP2B):c.531+8C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=891709[alleleid]",
        "alleleId": 891709,
        "preferredName": "NM_014043.4(CHMP2B):c.531+8C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/902967",
        "RCV": [
          "RCV001149929"
        ],
        "variationId": 902967
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-87302668-C-T",
        "id": "3-87302668-C-T",
        "variant": "3:87302668 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.87302668C>T?assembly=hg19",
        "id": "chr3:g.87302668C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.87253518C>T?assembly=hg38",
        "id": "chr3:g.87253518C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374796686",
        "rs": 374796686
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-87253518-C-T?dataset=gnomad_r3",
        "id": "3-87253518-C-T",
        "variant": "3:87253518 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-87253518-C-T?dataset=gnomad_r4",
        "id": "3-87253518-C-T",
        "variant": "3:87253518 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 87253518,
          "referenceAllele": "C",
          "start": 87253517
        }
      ],
      "hgvs": [
        "NC_000003.12:g.87253518C>T",
        "CM000665.2:g.87253518C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 87302668,
          "referenceAllele": "C",
          "start": 87302667
        }
      ],
      "hgvs": [
        "NC_000003.11:g.87302668C>T",
        "CM000665.1:g.87302668C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 87385358,
          "referenceAllele": "C",
          "start": 87385357
        }
      ],
      "hgvs": [
        "NC_000003.10:g.87385358C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31256,
          "referenceAllele": "C",
          "start": 31255
        }
      ],
      "hgvs": [
        "NG_007885.1:g.31256C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000692"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 745,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "ENST00000263780.9:c.531+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263780.4:n.531+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263780.9:c.531+8C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014043.4:c.531+8C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263780.4:n.531+8C>T"
          },
          "RefSeq": {
            "hgvs": "NP_054762.2:n.531+8C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "ENST00000472024.3:c.579+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480032.2:n.579+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 869,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "ENST00000676705.1:c.579+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504098.1:n.579+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4195,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 4195,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "ENST00000677929.1:n.4195+8C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4280,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 4280,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "ENST00000678859.1:n.4280+8C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "ENST00000263780.8:c.531+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263780.4:n.531+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 462,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "ENST00000466696.1:n.462+8C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 691,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "ENST00000471660.5:c.408+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419998.1:n.408+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 662,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "ENST00000494980.5:c.441+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418920.1:n.441+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 699,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 699,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "NM_001244644.1:c.408+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231573.1:n.408+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 791,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "NM_014043.3:c.531+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054762.2:n.531+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 618,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "XM_011533576.1:c.579+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531878.1:n.579+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 622,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "XM_011533576.2:c.579+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531878.1:n.579+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 745,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "NM_014043.4:c.531+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054762.2:n.531+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668180",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263780.9:c.531+8C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014043.4:c.531+8C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263780.4:n.531+8C>T"
          },
          "RefSeq": {
            "hgvs": "NP_054762.2:n.531+8C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 653,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024537",
      "geneNCBI_id": 25978,
      "geneSymbol": "CHMP2B",
      "hgvs": [
        "NM_001244644.2:c.408+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231573.1:n.408+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680303"
    }
  ],
  "type": "nucleotide"
}