{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4347230",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=833963[alleleid]",
        "alleleId": 833963,
        "preferredName": "NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/854060",
        "RCV": [
          "RCV002240366"
        ],
        "variationId": 854060
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-94047087-A-G",
        "id": "7-94047087-A-G",
        "variant": "7:94047087 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94047087A>G?assembly=hg19",
        "id": "chr7:g.94047087A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94417775A>G?assembly=hg38",
        "id": "chr7:g.94417775A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766541995",
        "rs": 766541995
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94047087-A-G?dataset=gnomad_r2_1",
        "id": "7-94047087-A-G",
        "variant": "7:94047087 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94417775-A-G?dataset=gnomad_r4",
        "id": "7-94417775-A-G",
        "variant": "7:94417775 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 94417775,
          "referenceAllele": "A",
          "start": 94417774
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94417775A>G",
        "CM000669.2:g.94417775A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 94047087,
          "referenceAllele": "A",
          "start": 94047086
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94047087A>G",
        "CM000669.1:g.94047087A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 93885023,
          "referenceAllele": "A",
          "start": 93885022
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93885023A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28215,
          "referenceAllele": "A",
          "start": 28214
        }
      ],
      "hgvs": [
        "NG_007405.1:g.28215A>G",
        "LRG_2:g.28215A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2052,
          "referenceAllele": "A",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.1915A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Ser639Gly",
        "hgvsWellDefined": "ENSP00000297268.6:p.Ser639Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.1915A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.1915A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Ser639Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Ser639Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2386,
          "referenceAllele": "A",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.1915A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Ser639Gly",
        "hgvsWellDefined": "ENSP00000297268.6:p.Ser639Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4,
          "referenceAllele": "A",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000461525.5:n.4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 252,
          "referenceAllele": "A",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000473573.5:n.252A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 312,
          "referenceAllele": "A",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000497316.5:n.312A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "A",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.1909A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:p.Ser637Gly",
        "hgvsWellDefined": "ENSP00000477719.1:p.Ser637Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139692567",
      "coordinates": [
        {
          "allele": "G",
          "end": 2386,
          "referenceAllele": "A",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.1915A>G",
        "LRG_2t1:c.1915A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Ser639Gly",
        "hgvsWellDefined": "NP_000080.2:p.Ser639Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139692567",
      "coordinates": [
        {
          "allele": "G",
          "end": 2052,
          "referenceAllele": "A",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.1915A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Ser639Gly",
        "hgvsWellDefined": "NP_000080.2:p.Ser639Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.1915A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.1915A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Ser639Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Ser639Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}