{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA822965",
  "communityStandardTitle": [
    "NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3054689[alleleid]",
        "alleleId": 3054689,
        "preferredName": "NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2889577",
        "RCV": [
          "RCV003610807"
        ],
        "variationId": 2889577
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-45292709-C-T",
        "id": "1-45292709-C-T",
        "variant": "1:45292709 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.45292709C>T?assembly=hg19",
        "id": "chr1:g.45292709C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.44827037C>T?assembly=hg38",
        "id": "chr1:g.44827037C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149133805",
        "rs": 149133805
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-45292709-C-T?dataset=gnomad_r2_1",
        "id": "1-45292709-C-T",
        "variant": "1:45292709 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-44827037-C-T?dataset=gnomad_r3",
        "id": "1-44827037-C-T",
        "variant": "1:44827037 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-44827037-C-T?dataset=gnomad_r4",
        "id": "1-44827037-C-T",
        "variant": "1:44827037 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 44827037,
          "referenceAllele": "C",
          "start": 44827036
        }
      ],
      "hgvs": [
        "NC_000001.11:g.44827037C>T",
        "CM000663.2:g.44827037C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 45292709,
          "referenceAllele": "C",
          "start": 45292708
        }
      ],
      "hgvs": [
        "NC_000001.10:g.45292709C>T",
        "CM000663.1:g.45292709C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 45065296,
          "referenceAllele": "C",
          "start": 45065295
        }
      ],
      "hgvs": [
        "NC_000001.9:g.45065296C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20908,
          "referenceAllele": "G",
          "start": 20907
        }
      ],
      "hgvs": [
        "NG_013369.1:g.20908G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002818"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2881,
          "referenceAllele": "G",
          "start": 2880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "ENST00000372192.4:c.2560G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361266.3:p.Glu854Lys",
        "hgvsWellDefined": "ENSP00000361266.3:p.Glu854Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750953",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372192.4:c.2560G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003738.5:c.2560G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361266.3:p.Glu854Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003729.3:p.Glu854Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2691,
          "referenceAllele": "G",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "ENST00000372192.3:c.2560G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361266.3:p.Glu854Lys",
        "hgvsWellDefined": "ENSP00000361266.3:p.Glu854Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2572,
          "referenceAllele": "G",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "ENST00000447098.6:c.2560G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389703.2:p.Glu854Lys",
        "hgvsWellDefined": "ENSP00000389703.2:p.Glu854Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826030726",
      "coordinates": [
        {
          "allele": "A",
          "end": 2572,
          "referenceAllele": "G",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "NM_001166292.1:c.2560G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159764.1:p.Glu854Lys",
        "hgvsWellDefined": "NP_001159764.1:p.Glu854Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741905839",
      "coordinates": [
        {
          "allele": "A",
          "end": 2572,
          "referenceAllele": "G",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "NM_003738.4:c.2560G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003729.3:p.Glu854Lys",
        "hgvsWellDefined": "NP_003729.3:p.Glu854Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028959"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741905839",
      "coordinates": [
        {
          "allele": "A",
          "end": 2881,
          "referenceAllele": "G",
          "start": 2880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "NM_003738.5:c.2560G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003729.3:p.Glu854Lys",
        "hgvsWellDefined": "NP_003729.3:p.Glu854Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372192.4:c.2560G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003738.5:c.2560G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361266.3:p.Glu854Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003729.3:p.Glu854Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826030726",
      "coordinates": [
        {
          "allele": "A",
          "end": 2881,
          "referenceAllele": "G",
          "start": 2880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009586",
      "geneNCBI_id": 8643,
      "geneSymbol": "PTCH2",
      "hgvs": [
        "NM_001166292.2:c.2560G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159764.1:p.Glu854Lys",
        "hgvsWellDefined": "NP_001159764.1:p.Glu854Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713200"
    }
  ],
  "type": "nucleotide"
}