{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA430309170",
  "communityStandardTitle": [
    "NM_000090.4(COL3A1):c.873C>A (p.Gly291=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=402134",
        "active": true,
        "id": "COSM402134"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=450286[alleleid]",
        "alleleId": 450286,
        "preferredName": "NM_000090.4(COL3A1):c.873C>A (p.Gly291=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/459797",
        "RCV": [
          "RCV000534967",
          "RCV001178159"
        ],
        "variationId": 459797
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189856233C>A?assembly=hg19",
        "id": "chr2:g.189856233C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.188991507C>A?assembly=hg38",
        "id": "chr2:g.188991507C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138569287",
        "rs": 138569287
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-189856233-C-A?dataset=gnomad_r2_1",
        "id": "2-189856233-C-A",
        "variant": "2:189856233 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-188991507-C-A?dataset=gnomad_r4",
        "id": "2-188991507-C-A",
        "variant": "2:188991507 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 188991507,
          "referenceAllele": "C",
          "start": 188991506
        }
      ],
      "hgvs": [
        "NC_000002.12:g.188991507C>A",
        "CM000664.2:g.188991507C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 189856233,
          "referenceAllele": "C",
          "start": 189856232
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189856233C>A",
        "CM000664.1:g.189856233C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 189564478,
          "referenceAllele": "C",
          "start": 189564477
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189564478C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22135,
          "referenceAllele": "C",
          "start": 22134
        }
      ],
      "hgvs": [
        "NG_007404.1:g.22135C>A",
        "LRG_3:g.22135C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000450867.2:c.873C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415346.2:p.Gly291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.9:c.873C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.4:p.Gly291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.873C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.873C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly291="
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly291="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.7:c.873C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.3:p.Gly291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000317840.9:c.873C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315243.6:p.Gly291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.3:c.873C>A",
        "LRG_3t1:c.873C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.1:p.Gly291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825057011",
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.4:c.873C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.2:p.Gly291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.873C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.873C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly291="
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly291="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}