{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257768",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.1414G>T (p.Gly472Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32288[alleleid]",
        "alleleId": 32288,
        "preferredName": "NM_000089.4(COL1A2):c.1414G>T (p.Gly472Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17249",
        "RCV": [
          "RCV000018789"
        ],
        "variationId": 17249
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94041905G>T?assembly=hg19",
        "id": "chr7:g.94041905G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94412593G>T?assembly=hg38",
        "id": "chr7:g.94412593G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912906",
        "rs": 121912906
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 94412593,
          "referenceAllele": "G",
          "start": 94412592
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94412593G>T",
        "CM000669.2:g.94412593G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 94041905,
          "referenceAllele": "G",
          "start": 94041904
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94041905G>T",
        "CM000669.1:g.94041905G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 93879841,
          "referenceAllele": "G",
          "start": 93879840
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93879841G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23033,
          "referenceAllele": "G",
          "start": 23032
        }
      ],
      "hgvs": [
        "NG_007405.1:g.23033G>T",
        "LRG_2:g.23033G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.1414G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly472Cys",
        "hgvsWellDefined": "ENSP00000297268.6:p.Gly472Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.1414G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.1414G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly472Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly472Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.1414G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly472Cys",
        "hgvsWellDefined": "ENSP00000297268.6:p.Gly472Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.1408G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:p.Gly470Cys",
        "hgvsWellDefined": "ENSP00000477719.1:p.Gly470Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257770",
      "coordinates": [
        {
          "allele": "T",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.1414G>T",
        "LRG_2t1:c.1414G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly472Cys",
        "hgvsWellDefined": "NP_000080.2:p.Gly472Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257770",
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.1414G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly472Cys",
        "hgvsWellDefined": "NP_000080.2:p.Gly472Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.1414G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.1414G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly472Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly472Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}