{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2319225381",
  "communityStandardTitle": [
    "NM_030662.4(MAP2K2):c.692G= (p.Arg231=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880511",
        "rs": 730880511
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 4101032,
          "referenceAllele": "C",
          "start": 4101031
        }
      ],
      "hgvs": [
        "NC_000019.10:g.4101032C=",
        "CM000681.2:g.4101032C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 4101030,
          "referenceAllele": "C",
          "start": 4101029
        }
      ],
      "hgvs": [
        "NC_000019.9:g.4101030C=",
        "CM000681.1:g.4101030C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 4052030,
          "referenceAllele": "C",
          "start": 4052029
        }
      ],
      "hgvs": [
        "NC_000019.8:g.4052030C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28097,
          "referenceAllele": "G",
          "start": 28096
        }
      ],
      "hgvs": [
        "NG_007996.1:g.28097G=",
        "LRG_750:g.28097G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000763"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "G",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000394867.9:n.1131G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "G",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000687128.1:n.1131G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000689792.1:n.632G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000262948.10:c.692G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262948.4:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262948.10:c.692G="
          },
          "RefSeq": {
            "hgvs": "NM_030662.4:c.692G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262948.4:p.Arg231="
          },
          "RefSeq": {
            "hgvs": "NP_109587.1:p.Arg231="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000262948.9:c.692G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262948.3:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000394867.8:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378336.1:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000593364.5:n.639G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "G",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000597008.5:n.293G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000597263.5:n.156G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16,
          "referenceAllele": "G",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000599021.1:c.16G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000601786.5:n.993G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000602167.5:n.412G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086021489",
      "coordinates": [
        {
          "allele": "G",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "NM_030662.3:c.692G=",
        "LRG_750t1:c.692G="
      ],
      "proteinEffect": {
        "hgvs": "NP_109587.1:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "XM_006722799.2:c.692G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722862.1:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "XM_011528133.1:c.122G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526435.1:p.Arg41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "XM_017026989.1:c.692G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882478.1:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "XM_017026990.1:c.692G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882479.1:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "XM_017026991.1:c.692G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882480.1:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086021489",
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "NM_030662.4:c.692G="
      ],
      "proteinEffect": {
        "hgvs": "NP_109587.1:p.Arg231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698868",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262948.10:c.692G="
          },
          "RefSeq": {
            "hgvs": "NM_030662.4:c.692G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262948.4:p.Arg231="
          },
          "RefSeq": {
            "hgvs": "NP_109587.1:p.Arg231="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}