{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA214963",
  "communityStandardTitle": [
    "NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6413488",
        "active": true,
        "id": "COSM6413488"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31979[alleleid]",
        "alleleId": 31979,
        "preferredName": "NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16940",
        "RCV": [
          "RCV000018448",
          "RCV000203330",
          "RCV001596934",
          "RCV001061709"
        ],
        "variationId": 16940
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.208989018G>T?assembly=hg19",
        "id": "chr2:g.208989018G>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.208989018_208989020delinsTGT?assembly=hg19",
        "id": "chr2:g.208989018_208989020delinsTGT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.208124294G>T?assembly=hg38",
        "id": "chr2:g.208124294G>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.208124294_208124296delinsTGT?assembly=hg38",
        "id": "chr2:g.208124294_208124296delinsTGT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28931605",
        "rs": 28931605
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-208989018-G-T?dataset=gnomad_r2_1",
        "id": "2-208989018-G-T",
        "variant": "2:208989018 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-208124294-G-T?dataset=gnomad_r4",
        "id": "2-208124294-G-T",
        "variant": "2:208124294 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 208124294,
          "referenceAllele": "G",
          "start": 208124293
        }
      ],
      "hgvs": [
        "NC_000002.12:g.208124294G>T",
        "CM000664.2:g.208124294G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 208989018,
          "referenceAllele": "G",
          "start": 208989017
        }
      ],
      "hgvs": [
        "NC_000002.11:g.208989018G>T",
        "CM000664.1:g.208989018G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 208697263,
          "referenceAllele": "G",
          "start": 208697262
        }
      ],
      "hgvs": [
        "NC_000002.10:g.208697263G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5296,
          "referenceAllele": "C",
          "start": 5295
        }
      ],
      "hgvs": [
        "NG_008039.1:g.5296C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 121,
          "referenceAllele": "C",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002411",
      "geneNCBI_id": 1421,
      "geneSymbol": "CRYGD",
      "hgvs": [
        "ENST00000264376.5:c.70C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264376.4:p.Pro24Thr",
        "hgvsWellDefined": "ENSP00000264376.4:p.Pro24Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742664",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264376.5:c.70C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006891.4:c.70C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264376.4:p.Pro24Thr"
          },
          "RefSeq": {
            "hgvs": "NP_008822.2:p.Pro24Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98,
          "referenceAllele": "C",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002411",
      "geneNCBI_id": 1421,
      "geneSymbol": "CRYGD",
      "hgvs": [
        "ENST00000264376.4:c.70C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264376.4:p.Pro24Thr",
        "hgvsWellDefined": "ENSP00000264376.4:p.Pro24Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111205",
      "coordinates": [
        {
          "allele": "A",
          "end": 186,
          "referenceAllele": "C",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002411",
      "geneNCBI_id": 1421,
      "geneSymbol": "CRYGD",
      "hgvs": [
        "NM_006891.3:c.70C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008822.2:p.Pro24Thr",
        "hgvsWellDefined": "NP_008822.2:p.Pro24Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 5069,
          "referenceAllele": "G",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 5068
        }
      ],
      "hgvs": [
        "NR_038437.1:n.97+5069G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111205",
      "coordinates": [
        {
          "allele": "A",
          "end": 121,
          "referenceAllele": "C",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002411",
      "geneNCBI_id": 1421,
      "geneSymbol": "CRYGD",
      "hgvs": [
        "NM_006891.4:c.70C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008822.2:p.Pro24Thr",
        "hgvsWellDefined": "NP_008822.2:p.Pro24Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264376.5:c.70C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006891.4:c.70C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264376.4:p.Pro24Thr"
          },
          "RefSeq": {
            "hgvs": "NP_008822.2:p.Pro24Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}