{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6585859",
  "communityStandardTitle": [
    "NM_000423.3(KRT2):c.340G>A (p.Gly114Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4150193",
        "active": true,
        "id": "COSM4150193"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=725163[alleleid]",
        "alleleId": 725163,
        "preferredName": "NM_000423.3(KRT2):c.340G>A (p.Gly114Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/715648",
        "RCV": [
          "RCV000888153",
          "RCV003955942"
        ],
        "variationId": 715648
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-53045587-C-T",
        "id": "12-53045587-C-T",
        "variant": "12:53045587 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.53045587C>T?assembly=hg19",
        "id": "chr12:g.53045587C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52651803C>T?assembly=hg38",
        "id": "chr12:g.52651803C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/76412202",
        "rs": 76412202
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-53045587-C-T?dataset=gnomad_r2_1",
        "id": "12-53045587-C-T",
        "variant": "12:53045587 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52651803-C-T?dataset=gnomad_r3",
        "id": "12-52651803-C-T",
        "variant": "12:52651803 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52651803-C-T?dataset=gnomad_r4",
        "id": "12-52651803-C-T",
        "variant": "12:52651803 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 52651803,
          "referenceAllele": "C",
          "start": 52651802
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52651803C>T",
        "CM000674.2:g.52651803C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 53045587,
          "referenceAllele": "C",
          "start": 53045586
        }
      ],
      "hgvs": [
        "NC_000012.11:g.53045587C>T",
        "CM000674.1:g.53045587C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 51331854,
          "referenceAllele": "C",
          "start": 51331853
        }
      ],
      "hgvs": [
        "NC_000012.10:g.51331854C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5373,
          "referenceAllele": "G",
          "start": 5372
        }
      ],
      "hgvs": [
        "NG_008296.1:g.5373G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006439",
      "geneNCBI_id": 3849,
      "geneSymbol": "KRT2",
      "hgvs": [
        "ENST00000309680.4:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310861.3:p.Gly114Ser",
        "hgvsWellDefined": "ENSP00000310861.3:p.Gly114Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000309680.4:c.340G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000423.3:c.340G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310861.3:p.Gly114Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000414.2:p.Gly114Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006439",
      "geneNCBI_id": 3849,
      "geneSymbol": "KRT2",
      "hgvs": [
        "ENST00000309680.3:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310861.3:p.Gly114Ser",
        "hgvsWellDefined": "ENSP00000310861.3:p.Gly114Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915965648",
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006439",
      "geneNCBI_id": 3849,
      "geneSymbol": "KRT2",
      "hgvs": [
        "NM_000423.2:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000414.2:p.Gly114Ser",
        "hgvsWellDefined": "NP_000414.2:p.Gly114Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915965648",
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006439",
      "geneNCBI_id": 3849,
      "geneSymbol": "KRT2",
      "hgvs": [
        "NM_000423.3:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000414.2:p.Gly114Ser",
        "hgvsWellDefined": "NP_000414.2:p.Gly114Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662435",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000309680.4:c.340G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000423.3:c.340G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310861.3:p.Gly114Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000414.2:p.Gly114Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}