{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2319234334",
  "communityStandardTitle": [
    "NM_030662.4(MAP2K2):c.170T= (p.Phe57=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434497",
        "rs": 121434497
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 4117552,
          "referenceAllele": "A",
          "start": 4117551
        }
      ],
      "hgvs": [
        "NC_000019.10:g.4117552A=",
        "CM000681.2:g.4117552A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 4117550,
          "referenceAllele": "A",
          "start": 4117549
        }
      ],
      "hgvs": [
        "NC_000019.9:g.4117550A=",
        "CM000681.1:g.4117550A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 4068550,
          "referenceAllele": "A",
          "start": 4068549
        }
      ],
      "hgvs": [
        "NC_000019.8:g.4068550A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11577,
          "referenceAllele": "T",
          "start": 11576
        }
      ],
      "hgvs": [
        "NG_007996.1:g.11577T=",
        "LRG_750:g.11577T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000763"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "T",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000394867.9:n.609T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "T",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000687128.1:n.609T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "T",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000262948.10:c.170T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262948.4:p.Phe57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262948.10:c.170T="
          },
          "RefSeq": {
            "hgvs": "NM_030662.4:c.170T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262948.4:p.Phe57="
          },
          "RefSeq": {
            "hgvs": "NP_109587.1:p.Phe57="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "T",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000262948.9:c.170T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262948.3:p.Phe57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "T",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000394867.8:c.-122T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378336.1:n.-122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "T",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "ENST00000599345.1:n.367T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830046970",
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "T",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "NM_030662.3:c.170T=",
        "LRG_750t1:c.170T="
      ],
      "proteinEffect": {
        "hgvs": "NP_109587.1:p.Phe57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "T",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "XM_006722799.2:c.170T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722862.1:p.Phe57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "T",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "XM_017026989.1:c.170T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882478.1:p.Phe57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "T",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "XM_017026990.1:c.170T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882479.1:p.Phe57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "T",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "XM_017026991.1:c.170T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882480.1:p.Phe57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830046970",
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "T",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006842",
      "geneNCBI_id": 5605,
      "geneSymbol": "MAP2K2",
      "hgvs": [
        "NM_030662.4:c.170T="
      ],
      "proteinEffect": {
        "hgvs": "NP_109587.1:p.Phe57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698868",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262948.10:c.170T="
          },
          "RefSeq": {
            "hgvs": "NM_030662.4:c.170T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262948.4:p.Phe57="
          },
          "RefSeq": {
            "hgvs": "NP_109587.1:p.Phe57="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}