{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4796543",
  "communityStandardTitle": [
    "NM_000067.3(CA2):c.462G>A (p.Pro154=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4588232"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=900091[alleleid]",
        "alleleId": 900091,
        "preferredName": "NM_000067.3(CA2):c.462G>A (p.Pro154=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/911481",
        "RCV": [
          "RCV001163962",
          "RCV002067997"
        ],
        "variationId": 911481
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-86388044-G-A",
        "id": "8-86388044-G-A",
        "variant": "8:86388044 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.86388044G>A?assembly=hg19",
        "id": "chr8:g.86388044G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.85475815G>A?assembly=hg38",
        "id": "chr8:g.85475815G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140623407",
        "rs": 140623407
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-86388044-G-A?dataset=gnomad_r2_1",
        "id": "8-86388044-G-A",
        "variant": "8:86388044 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-85475815-G-A?dataset=gnomad_r3",
        "id": "8-85475815-G-A",
        "variant": "8:85475815 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-85475815-G-A?dataset=gnomad_r4",
        "id": "8-85475815-G-A",
        "variant": "8:85475815 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 85475815,
          "referenceAllele": "G",
          "start": 85475814
        }
      ],
      "hgvs": [
        "NC_000008.11:g.85475815G>A",
        "CM000670.2:g.85475815G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 86388044,
          "referenceAllele": "G",
          "start": 86388043
        }
      ],
      "hgvs": [
        "NC_000008.10:g.86388044G>A",
        "CM000670.1:g.86388044G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 86575296,
          "referenceAllele": "G",
          "start": 86575295
        }
      ],
      "hgvs": [
        "NC_000008.9:g.86575296G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16799,
          "referenceAllele": "G",
          "start": 16798
        }
      ],
      "hgvs": [
        "NG_007287.1:g.16799G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000535"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001373",
      "geneNCBI_id": 760,
      "geneSymbol": "CA2",
      "hgvs": [
        "ENST00000285379.10:c.462G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285379.4:p.Pro154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285379.10:c.462G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000067.3:c.462G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285379.4:p.Pro154="
          },
          "RefSeq": {
            "hgvs": "NP_000058.1:p.Pro154="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001373",
      "geneNCBI_id": 760,
      "geneSymbol": "CA2",
      "hgvs": [
        "ENST00000285379.9:c.462G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285379.4:p.Pro154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001373",
      "geneNCBI_id": 760,
      "geneSymbol": "CA2",
      "hgvs": [
        "ENST00000520127.5:c.*49G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428443.1:n.*49G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001373",
      "geneNCBI_id": 760,
      "geneSymbol": "CA2",
      "hgvs": [
        "ENST00000522742.1:c.*236G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428947.1:n.*236G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825009452",
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001373",
      "geneNCBI_id": 760,
      "geneSymbol": "CA2",
      "hgvs": [
        "NM_000067.2:c.462G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000058.1:p.Pro154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826836663",
      "coordinates": [
        {
          "allele": "A",
          "end": 523,
          "referenceAllele": "G",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001373",
      "geneNCBI_id": 760,
      "geneSymbol": "CA2",
      "hgvs": [
        "NM_001293675.1:c.159G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280604.1:p.Pro53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825009452",
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001373",
      "geneNCBI_id": 760,
      "geneSymbol": "CA2",
      "hgvs": [
        "NM_000067.3:c.462G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000058.1:p.Pro154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285379.10:c.462G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000067.3:c.462G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285379.4:p.Pro154="
          },
          "RefSeq": {
            "hgvs": "NP_000058.1:p.Pro154="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826836663",
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001373",
      "geneNCBI_id": 760,
      "geneSymbol": "CA2",
      "hgvs": [
        "NM_001293675.2:c.159G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280604.1:p.Pro53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716773"
    }
  ],
  "type": "nucleotide"
}