{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA618958632",
  "communityStandardTitle": [
    "NM_002755.4(MAP2K1):c.1023-4T>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2839699[alleleid]",
        "alleleId": 2839699,
        "preferredName": "NM_002755.4(MAP2K1):c.1023-4T>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2672171",
        "RCV": [
          "RCV003457221",
          "RCV003655429"
        ],
        "variationId": 2672171
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.66782052T>A?assembly=hg19",
        "id": "chr15:g.66782052T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.66489714T>A?assembly=hg38",
        "id": "chr15:g.66489714T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1462240441",
        "rs": 1462240441
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-66782052-T-A?dataset=gnomad_r2_1",
        "id": "15-66782052-T-A",
        "variant": "15:66782052 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-66489714-T-A?dataset=gnomad_r3",
        "id": "15-66489714-T-A",
        "variant": "15:66489714 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-66489714-T-A?dataset=gnomad_r4",
        "id": "15-66489714-T-A",
        "variant": "15:66489714 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 66489714,
          "referenceAllele": "T",
          "start": 66489713
        }
      ],
      "hgvs": [
        "NC_000015.10:g.66489714T>A",
        "CM000677.2:g.66489714T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 66782052,
          "referenceAllele": "T",
          "start": 66782051
        }
      ],
      "hgvs": [
        "NC_000015.9:g.66782052T>A",
        "CM000677.1:g.66782052T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 64569106,
          "referenceAllele": "T",
          "start": 64569105
        }
      ],
      "hgvs": [
        "NC_000015.8:g.64569106T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107842,
          "referenceAllele": "T",
          "start": 107841
        }
      ],
      "hgvs": [
        "NG_008305.1:g.107842T>A",
        "LRG_725:g.107842T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13102,
          "referenceAllele": "A",
          "start": 13101
        }
      ],
      "hgvs": [
        "NG_051234.1:g.13102A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616918"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 809,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000684779.1:c.*71-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508681.1:n.*71-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1458,
          "endIntronDirection": "+",
          "endIntronOffset": 438,
          "referenceAllele": "T",
          "start": 1458,
          "startIntronDirection": "+",
          "startIntronOffset": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000685172.1:c.1022+438T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509604.1:n.1022+438T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1311,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000685763.1:c.876-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509016.1:n.876-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1131,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1131,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000686347.1:c.696-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509027.1:n.696-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3302,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 3302,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000687191.1:n.3303-4T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 437,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000687481.1:n.438-4T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 777,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 777,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000688689.1:n.778-4T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1509,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1509,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000689951.1:c.1074-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509308.1:n.1074-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3376,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 3376,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691077.1:c.*2182-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509843.1:n.*2182-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1329,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1329,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691576.1:c.894-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510066.1:n.894-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1393,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1393,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691937.1:c.*4-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508768.1:n.*4-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3814,
          "referenceAllele": "T",
          "start": 3813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000692487.1:c.*2619T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509534.1:n.*2619T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1149,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000692683.1:c.957-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508437.1:n.957-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 932,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 932,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000693150.1:c.879-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510309.1:n.879-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1458,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1458,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000307102.10:c.1023-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302486.5:n.1023-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307102.10:c.1023-4T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002755.4:c.1023-4T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302486.5:n.1023-4T>A"
          },
          "RefSeq": {
            "hgvs": "NP_002746.1:n.1023-4T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1553,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1553,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000307102.9:c.1023-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302486.4:n.1023-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000566326.1:c.495-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456438.1:n.495-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1497,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NM_002755.3:c.1023-4T>A",
        "LRG_725t1:c.1023-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002746.1:n.1023-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1022,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1022,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_011521783.1:c.957-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520085.1:n.957-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1150,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_011521783.3:c.957-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520085.1:n.957-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1359,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1359,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_017022411.2:c.945-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877900.1:n.945-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 956,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_017022412.1:c.879-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877901.1:n.879-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1565,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1565,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_017022413.1:c.495-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877902.1:n.495-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1458,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "T",
          "start": 1458,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NM_002755.4:c.1023-4T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002746.1:n.1023-4T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307102.10:c.1023-4T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002755.4:c.1023-4T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302486.5:n.1023-4T>A"
          },
          "RefSeq": {
            "hgvs": "NP_002746.1:n.1023-4T>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}