{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA398242403",
  "communityStandardTitle": [
    "NM_003010.4(MAP2K4):c.1087-1G>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1479240",
        "active": true,
        "id": "COSM1479240"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1330413[alleleid]",
        "alleleId": 1330413,
        "preferredName": "NM_003010.4(MAP2K4):c.1087-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1339354",
        "RCV": [
          "RCV001823950"
        ],
        "variationId": 1339354
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.12044463G>C?assembly=hg19",
        "id": "chr17:g.12044463G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.12141146G>C?assembly=hg38",
        "id": "chr17:g.12141146G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2151599700",
        "rs": 2151599700
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 12141146,
          "referenceAllele": "G",
          "start": 12141145
        }
      ],
      "hgvs": [
        "NC_000017.11:g.12141146G>C",
        "CM000679.2:g.12141146G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 12044463,
          "referenceAllele": "G",
          "start": 12044462
        }
      ],
      "hgvs": [
        "NC_000017.10:g.12044463G>C",
        "CM000679.1:g.12044463G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 11985188,
          "referenceAllele": "G",
          "start": 11985187
        }
      ],
      "hgvs": [
        "NC_000017.9:g.11985188G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125329,
          "referenceAllele": "G",
          "start": 125328
        }
      ],
      "hgvs": [
        "NG_033952.1:g.125329G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005626"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1096,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "ENST00000353533.10:c.1087-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262445.5:n.1087-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000353533.10:c.1087-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003010.4:c.1087-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262445.5:n.1087-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_003001.1:n.1087-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1149,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1149,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "ENST00000353533.9:c.1087-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262445.5:n.1087-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262975"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1172,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "ENST00000415385.7:c.1120-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410402.3:n.1120-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1268,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "ENST00000536413.2:n.1269-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 450,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "ENST00000538465.7:c.451-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 825,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 825,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "ENST00000602305.5:c.*671-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473606.1:n.*671-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 928,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 928,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "ENST00000602375.5:c.*633-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473472.1:n.*633-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398165"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 834,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "ENST00000602537.5:c.835-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473511.1:n.835-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 863,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "ENST00000602686.5:c.864-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473458.1:n.864-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1000,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1000,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "ENST00000602811.5:c.*858-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473582.1:n.*858-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1188,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "NM_001281435.1:c.1120-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268364.1:n.1120-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1155,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1155,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "NM_003010.3:c.1087-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003001.1:n.1087-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 994,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 994,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "XM_005256753.1:c.733-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256810.1:n.733-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 976,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "XM_005256755.1:c.649-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256812.1:n.649-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 866,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 866,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "XM_011523977.1:c.649-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522279.1:n.649-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091109"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 966,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 966,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "XM_005256753.3:c.733-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256810.1:n.733-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 976,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "XM_005256755.2:c.649-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256812.1:n.649-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 866,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 866,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "XM_011523977.2:c.649-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522279.1:n.649-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1230,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1230,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "XR_001752584.2:n.1231-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1263,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "XR_934080.2:n.1264-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1096,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "NM_003010.4:c.1087-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003001.1:n.1087-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665826",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000353533.10:c.1087-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003010.4:c.1087-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262445.5:n.1087-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_003001.1:n.1087-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1129,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1129,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006844",
      "geneNCBI_id": 6416,
      "geneSymbol": "MAP2K4",
      "hgvs": [
        "NM_001281435.2:c.1120-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268364.1:n.1120-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681634"
    }
  ],
  "type": "nucleotide"
}