{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254234",
  "communityStandardTitle": [
    "NM_000303.3(PMM2):c.669C>G (p.Asp223Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22753[alleleid]",
        "alleleId": 22753,
        "preferredName": "NM_000303.3(PMM2):c.669C>G (p.Asp223Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7714",
        "RCV": [
          "RCV000008153"
        ],
        "variationId": 7714
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.8941610C>G?assembly=hg19",
        "id": "chr16:g.8941610C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.8847753C>G?assembly=hg38",
        "id": "chr16:g.8847753C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894531",
        "rs": 104894531
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 8847753,
          "referenceAllele": "C",
          "start": 8847752
        }
      ],
      "hgvs": [
        "NC_000016.10:g.8847753C>G",
        "CM000678.2:g.8847753C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 8941610,
          "referenceAllele": "C",
          "start": 8941609
        }
      ],
      "hgvs": [
        "NC_000016.9:g.8941610C>G",
        "CM000678.1:g.8941610C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 8849111,
          "referenceAllele": "C",
          "start": 8849110
        }
      ],
      "hgvs": [
        "NC_000016.8:g.8849111C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54941,
          "referenceAllele": "C",
          "start": 54940
        }
      ],
      "hgvs": [
        "NG_009209.1:g.54941C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001482"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3837,
          "referenceAllele": "C",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000567697.2:n.3837C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 511,
          "endIntronDirection": "-",
          "endIntronOffset": 1615,
          "referenceAllele": "C",
          "start": 511,
          "startIntronDirection": "-",
          "startIntronOffset": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000682393.1:c.*258-1616C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506774.1:n.*258-1616C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "endIntronDirection": "-",
          "endIntronOffset": 1615,
          "referenceAllele": "C",
          "start": 517,
          "startIntronDirection": "-",
          "startIntronOffset": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000683094.1:c.*262-1616C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508230.1:n.*262-1616C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "endIntronDirection": "-",
          "endIntronOffset": 1615,
          "referenceAllele": "C",
          "start": 580,
          "startIntronDirection": "-",
          "startIntronOffset": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000683274.1:c.*180-1616C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507262.1:n.*180-1616C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000683435.1:c.*565C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508092.1:n.*565C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000268261.9:c.669C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268261.4:p.Asp223Glu",
        "hgvsWellDefined": "ENSP00000268261.4:p.Asp223Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743044",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268261.9:c.669C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000303.3:c.669C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268261.4:p.Asp223Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000294.1:p.Asp223Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000268261.8:c.669C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268261.4:p.Asp223Glu",
        "hgvsWellDefined": "ENSP00000268261.4:p.Asp223Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000562025.1:n.203C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000562318.5:c.*391C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454395.1:n.*391C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "C",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000565221.5:c.*287C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457932.1:n.*287C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000566540.5:c.*291C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454284.1:n.*291C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000566604.5:c.*209C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456774.1:n.*209C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000566983.5:c.588C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457956.1:p.Asp196Glu",
        "hgvsWellDefined": "ENSP00000457956.1:p.Asp196Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3837,
          "referenceAllele": "C",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000567697.1:n.3837C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000569958.5:c.396C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456302.1:p.Asp132Glu",
        "hgvsWellDefined": "ENSP00000456302.1:p.Asp132Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381813"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "ENST00000570076.5:c.*127C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456961.1:n.*127C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109630",
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NM_000303.2:c.669C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000294.1:p.Asp223Glu",
        "hgvsWellDefined": "NP_000294.1:p.Asp223Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_005255374.3:c.420C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255431.1:p.Asp140Glu",
        "hgvsWellDefined": "XP_005255431.1:p.Asp140Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 701,
          "endIntronDirection": "-",
          "endIntronOffset": 7280,
          "referenceAllele": "C",
          "start": 701,
          "startIntronDirection": "-",
          "startIntronOffset": 7281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_011522538.1:c.640-7281C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520840.1:n.640-7281C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_005255374.4:c.420C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255431.1:p.Asp140Glu",
        "hgvsWellDefined": "XP_005255431.1:p.Asp140Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109630",
      "coordinates": [
        {
          "allele": "G",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NM_000303.3:c.669C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000294.1:p.Asp223Glu",
        "hgvsWellDefined": "NP_000294.1:p.Asp223Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268261.9:c.669C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000303.3:c.669C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268261.4:p.Asp223Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000294.1:p.Asp223Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}