{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257792",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=226177",
        "active": true,
        "id": "COSM226177"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32306[alleleid]",
        "alleleId": 32306,
        "preferredName": "NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17267",
        "RCV": [
          "RCV000018808",
          "RCV002228039"
        ],
        "variationId": 17267
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-94049916-G-A",
        "id": "7-94049916-G-A",
        "variant": "7:94049916 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94049916G>A?assembly=hg19",
        "id": "chr7:g.94049916G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94420604G>A?assembly=hg38",
        "id": "chr7:g.94420604G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72658176",
        "rs": 72658176
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94049916-G-A?dataset=gnomad_r2_1",
        "id": "7-94049916-G-A",
        "variant": "7:94049916 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94420604-G-A?dataset=gnomad_r4",
        "id": "7-94420604-G-A",
        "variant": "7:94420604 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94420604,
          "referenceAllele": "G",
          "start": 94420603
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94420604G>A",
        "CM000669.2:g.94420604G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94049916,
          "referenceAllele": "G",
          "start": 94049915
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94049916G>A",
        "CM000669.1:g.94049916G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 93887852,
          "referenceAllele": "G",
          "start": 93887851
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93887852G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31044,
          "referenceAllele": "G",
          "start": 31043
        }
      ],
      "hgvs": [
        "NG_007405.1:g.31044G>A",
        "LRG_2:g.31044G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2388,
          "referenceAllele": "G",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly751Ser",
        "hgvsWellDefined": "ENSP00000297268.6:p.Gly751Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2251G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2251G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly751Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly751Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "referenceAllele": "G",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly751Ser",
        "hgvsWellDefined": "ENSP00000297268.6:p.Gly751Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000461525.5:n.340G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000467931.1:n.271G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000473573.5:n.588G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000497316.5:n.648G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2363,
          "referenceAllele": "G",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.2245G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:p.Gly749Ser",
        "hgvsWellDefined": "ENSP00000477719.1:p.Gly749Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098869",
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "referenceAllele": "G",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.2251G>A",
        "LRG_2t1:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly751Ser",
        "hgvsWellDefined": "NP_000080.2:p.Gly751Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098869",
      "coordinates": [
        {
          "allele": "A",
          "end": 2388,
          "referenceAllele": "G",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.2251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly751Ser",
        "hgvsWellDefined": "NP_000080.2:p.Gly751Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2251G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2251G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly751Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly751Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}