{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15159837",
  "communityStandardTitle": [
    "NM_000145.4(FSHR):c.224+2996G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.49292362C>T?assembly=hg19",
        "id": "chr2:g.49292362C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.49065223C>T?assembly=hg38",
        "id": "chr2:g.49065223C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12473815",
        "rs": 12473815
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-49292362-C-T?dataset=gnomad_r2_1",
        "id": "2-49292362-C-T",
        "variant": "2:49292362 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-49065223-C-T?dataset=gnomad_r3",
        "id": "2-49065223-C-T",
        "variant": "2:49065223 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-49065223-C-T?dataset=gnomad_r4",
        "id": "2-49065223-C-T",
        "variant": "2:49065223 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 49065223,
          "referenceAllele": "C",
          "start": 49065222
        }
      ],
      "hgvs": [
        "NC_000002.12:g.49065223C>T",
        "CM000664.2:g.49065223C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 49292362,
          "referenceAllele": "C",
          "start": 49292361
        }
      ],
      "hgvs": [
        "NC_000002.11:g.49292362C>T",
        "CM000664.1:g.49292362C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 49145866,
          "referenceAllele": "C",
          "start": 49145865
        }
      ],
      "hgvs": [
        "NC_000002.10:g.49145866C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 94269,
          "referenceAllele": "G",
          "start": 94268
        }
      ],
      "hgvs": [
        "NG_008146.1:g.94269G>A",
        "LRG_536:g.94269G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000892"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.7:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.224+2996G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.224+2996G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:n.224+2996G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:n.224+2996G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 288,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000304421.8:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306780.4:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.6:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 334,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000419927.1:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405775.1:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 240,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 240,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000454032.5:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415504.1:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 334,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.3:c.224+2996G>A",
        "LRG_536t1:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 334,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.2:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.1:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 334,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.1:c.-361+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:n.-361+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532737.1:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531039.1:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532738.1:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531040.1:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532739.1:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531041.1:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532740.1:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531042.1:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.2:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 334,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.2:c.-361+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:n.-361+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.4:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.224+2996G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.224+2996G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:n.224+2996G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:n.224+2996G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 2996,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.3:c.224+2996G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:n.224+2996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700944"
    }
  ],
  "type": "nucleotide"
}