{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA280216502",
  "communityStandardTitle": [
    "NM_000293.3(PHKB):c.1972-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1683105[alleleid]",
        "alleleId": 1683105,
        "preferredName": "NM_000293.3(PHKB):c.1972-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1690697",
        "RCV": [
          "RCV002253115",
          "RCV003094124",
          "RCV003314723"
        ],
        "variationId": 1690697
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.47694415A>G?assembly=hg19",
        "id": "chr16:g.47694415A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.47660504A>G?assembly=hg38",
        "id": "chr16:g.47660504A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/964263812",
        "rs": 964263812
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 47660504,
          "referenceAllele": "A",
          "start": 47660503
        }
      ],
      "hgvs": [
        "NC_000016.10:g.47660504A>G",
        "CM000678.2:g.47660504A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 47694415,
          "referenceAllele": "A",
          "start": 47694414
        }
      ],
      "hgvs": [
        "NC_000016.9:g.47694415A>G",
        "CM000678.1:g.47694415A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 46251916,
          "referenceAllele": "A",
          "start": 46251915
        }
      ],
      "hgvs": [
        "NC_000016.8:g.46251916A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 204206,
          "referenceAllele": "A",
          "start": 204205
        }
      ],
      "hgvs": [
        "NG_016598.1:g.204206A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2191,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2191,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000696809.1:c.*546-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512887.1:n.*546-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2118,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2118,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000699276.1:c.1951-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514257.1:n.1951-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1991,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1991,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000323584.10:c.1972-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313504.5:n.1972-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323584.10:c.1972-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000293.3:c.1972-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313504.5:n.1972-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000284.1:n.1972-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1996,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1996,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000299167.12:c.1972-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299167.8:n.1972-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1995,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1995,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000323584.9:c.1972-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313504.5:n.1972-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2139,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2139,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000566044.5:c.1951-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456729.1:n.1951-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 92,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000568171.1:n.93-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2023,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2023,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_000293.2:c.1972-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000284.1:n.1972-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2135,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001031835.2:c.1951-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027005.1:n.1951-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1986,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255983.3:c.1972-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256040.1:n.1972-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2149,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2149,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255984.3:c.1951-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256041.1:n.1951-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1986,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_011523106.1:c.1972-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521408.1:n.1972-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_011523107.1:c.550-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521409.1:n.550-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2023,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2023,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001363837.1:c.1972-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350766.1:n.1972-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1986,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255983.4:c.1972-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256040.1:n.1972-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2286,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2286,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255984.4:c.1951-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256041.1:n.1951-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1280,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1280,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023282.1:c.859-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878771.1:n.859-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2191,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2191,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023283.1:c.550-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878772.1:n.550-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2072,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2072,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023284.1:c.550-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878773.1:n.550-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1986,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XR_001751913.1:n.1987-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1991,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1991,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_000293.3:c.1972-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000284.1:n.1972-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323584.10:c.1972-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000293.3:c.1972-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313504.5:n.1972-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000284.1:n.1972-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2103,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2103,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001031835.3:c.1951-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027005.1:n.1951-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675749"
    }
  ],
  "type": "nucleotide"
}