{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA005375",
  "communityStandardTitle": [
    "NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4537567",
        "active": true,
        "id": "COSM4537567"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4537568",
        "active": true,
        "id": "COSM4537568"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32238[alleleid]",
        "alleleId": 32238,
        "preferredName": "NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17199",
        "RCV": [
          "RCV000018739"
        ],
        "variationId": 17199
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189867069G>A?assembly=hg19",
        "id": "chr2:g.189867069G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189002343G>A?assembly=hg38",
        "id": "chr2:g.189002343G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397509369",
        "rs": 397509369
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 189002343,
          "referenceAllele": "G",
          "start": 189002342
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189002343G>A",
        "CM000664.2:g.189002343G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 189867069,
          "referenceAllele": "G",
          "start": 189867068
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189867069G>A",
        "CM000664.1:g.189867069G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 189575314,
          "referenceAllele": "G",
          "start": 189575313
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189575314G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32971,
          "referenceAllele": "G",
          "start": 32970
        }
      ],
      "hgvs": [
        "NG_007404.1:g.32971G>A",
        "LRG_3:g.32971G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2455,
          "referenceAllele": "G",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000450867.2:c.2338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415346.2:p.Gly780Ser",
        "hgvsWellDefined": "ENSP00000415346.2:p.Gly780Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.9:c.2437G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.4:p.Gly813Ser",
        "hgvsWellDefined": "ENSP00000304408.4:p.Gly813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.2437G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.2437G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly813Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly813Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2607,
          "referenceAllele": "G",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.7:c.2437G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.3:p.Gly813Ser",
        "hgvsWellDefined": "ENSP00000304408.3:p.Gly813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2541,
          "referenceAllele": "G",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000317840.9:c.2437G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315243.6:p.Gly813Ser",
        "hgvsWellDefined": "ENSP00000315243.6:p.Gly813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281699",
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.3:c.2437G>A",
        "LRG_3t1:c.2437G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.1:p.Gly813Ser",
        "hgvsWellDefined": "NP_000081.1:p.Gly813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825057497",
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.4:c.2437G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.2:p.Gly813Ser",
        "hgvsWellDefined": "NP_000081.2:p.Gly813Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.2437G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.2437G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly813Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly813Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}