{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2184071744",
  "communityStandardTitle": [
    "NM_002755.4(MAP2K1):c.169A= (p.Lys57=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516790",
        "rs": 397516790
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 66435115,
          "referenceAllele": "A",
          "start": 66435114
        }
      ],
      "hgvs": [
        "NC_000015.10:g.66435115A=",
        "CM000677.2:g.66435115A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 66727453,
          "referenceAllele": "A",
          "start": 66727452
        }
      ],
      "hgvs": [
        "NC_000015.9:g.66727453A=",
        "CM000677.1:g.66727453A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 64514507,
          "referenceAllele": "A",
          "start": 64514506
        }
      ],
      "hgvs": [
        "NC_000015.8:g.64514507A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53243,
          "referenceAllele": "A",
          "start": 53242
        }
      ],
      "hgvs": [
        "NG_008305.1:g.53243A=",
        "LRG_725:g.53243A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "referenceAllele": "A",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000684779.1:c.103A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508681.1:p.Lys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000685172.1:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509604.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000685763.1:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509016.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000686347.1:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509027.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000687191.1:n.605A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000689951.1:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509308.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691077.1:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509843.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691576.1:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510066.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691937.1:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508768.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000692487.1:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509534.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "referenceAllele": "A",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000692683.1:c.103A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508437.1:p.Lys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "referenceAllele": "A",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000693150.1:c.103A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510309.1:p.Lys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000307102.10:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302486.5:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307102.10:c.169A="
          },
          "RefSeq": {
            "hgvs": "NM_002755.4:c.169A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302486.5:p.Lys57="
          },
          "RefSeq": {
            "hgvs": "NP_002746.1:p.Lys57="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000307102.9:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302486.4:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "A",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000425818.2:n.680A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081992212",
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NM_002755.3:c.169A=",
        "LRG_725t1:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002746.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 169,
          "referenceAllele": "A",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_011521783.1:c.103A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520085.1:p.Lys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "referenceAllele": "A",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_011521783.3:c.103A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520085.1:p.Lys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "referenceAllele": "A",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_017022411.2:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877900.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "referenceAllele": "A",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_017022412.1:c.103A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877901.1:p.Lys35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081992212",
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NM_002755.4:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002746.1:p.Lys57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307102.10:c.169A="
          },
          "RefSeq": {
            "hgvs": "NM_002755.4:c.169A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302486.5:p.Lys57="
          },
          "RefSeq": {
            "hgvs": "NP_002746.1:p.Lys57="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}