{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008371",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=35885",
        "active": true,
        "id": "COSM35885"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94654[alleleid]",
        "alleleId": 94654,
        "preferredName": "NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89180",
        "RCV": [
          "RCV000131942",
          "RCV000422207",
          "RCV000524105",
          "RCV000410444",
          "RCV001354476",
          "RCV001719808",
          "RCV003149716",
          "RCV004542739"
        ],
        "variationId": 89180
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-48010496-C-T",
        "id": "2-48010496-C-T",
        "variant": "2:48010496 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48010496C>T?assembly=hg19",
        "id": "chr2:g.48010496C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47783357C>T?assembly=hg38",
        "id": "chr2:g.47783357C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34014629",
        "rs": 34014629
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-48010496-C-T?dataset=gnomad_r2_1",
        "id": "2-48010496-C-T",
        "variant": "2:48010496 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47783357-C-T?dataset=gnomad_r3",
        "id": "2-47783357-C-T",
        "variant": "2:47783357 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47783357-C-T?dataset=gnomad_r4",
        "id": "2-47783357-C-T",
        "variant": "2:47783357 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 47783357,
          "referenceAllele": "C",
          "start": 47783356
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47783357C>T",
        "CM000664.2:g.47783357C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48010496,
          "referenceAllele": "C",
          "start": 48010495
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48010496C>T",
        "CM000664.1:g.48010496C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 47864000,
          "referenceAllele": "C",
          "start": 47863999
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47864000C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5211,
          "referenceAllele": "C",
          "start": 5210
        }
      ],
      "hgvs": [
        "NG_007111.1:g.5211C>T",
        "LRG_219:g.5211C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:p.Pro42Ser",
        "hgvsWellDefined": "ENSP00000514752.2:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.208C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:p.Pro42Ser",
        "hgvsWellDefined": "ENSP00000514749.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "C",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700001.1:n.196C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "C",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Pro42Ser",
        "hgvsWellDefined": "ENSP00000514750.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "referenceAllele": "C",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:p.Pro42Ser",
        "hgvsWellDefined": "ENSP00000514751.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Pro42Ser",
        "hgvsWellDefined": "ENSP00000234420.5:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.124C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.124C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Pro42Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Pro42Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "C",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Pro42Ser",
        "hgvsWellDefined": "ENSP00000446475.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 7569,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 7570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.-37-7570C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:n.-37-7570C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "endIntronDirection": "+",
          "endIntronOffset": 126,
          "referenceAllele": "C",
          "start": 81,
          "startIntronDirection": "+",
          "startIntronOffset": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.-38+126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:n.-38+126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673922.1:n.213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Pro42Ser",
        "hgvsWellDefined": "ENSP00000234420.4:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:p.Pro42Ser",
        "hgvsWellDefined": "ENSP00000405294.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000456246.1:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410570.1:p.Pro42Ser",
        "hgvsWellDefined": "ENSP00000410570.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 188,
          "referenceAllele": "C",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000493177.1:n.188C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Pro42Ser",
        "hgvsWellDefined": "ENSP00000446475.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 7569,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 7570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000606499.1:c.-37-7570C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475605.1:n.-37-7570C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.-613C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:n.-613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000616033.4:c.122C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480261.1:p.Ser41Phe",
        "hgvsWellDefined": "ENSP00000480261.1:p.Ser41Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.-2973C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:n.-2973C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA168926",
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.124C>T",
        "LRG_219t1:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Pro42Ser",
        "hgvsWellDefined": "NP_000170.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010989",
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Pro42Ser",
        "hgvsWellDefined": "NP_001268421.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.-613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:n.-613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 75,
          "endIntronDirection": "+",
          "endIntronOffset": 126,
          "referenceAllele": "C",
          "start": 75,
          "startIntronDirection": "+",
          "startIntronOffset": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.-38+126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:n.-38+126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Pro42Ser",
        "hgvsWellDefined": "XP_024308587.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "referenceAllele": "C",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.-613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:n.-613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA168926",
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Pro42Ser",
        "hgvsWellDefined": "NP_000170.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.124C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.124C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Pro42Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Pro42Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010989",
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.124C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Pro42Ser",
        "hgvsWellDefined": "NP_001268421.1:p.Pro42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.-613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:n.-613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    }
  ],
  "type": "nucleotide"
}