{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2189347413",
  "communityStandardTitle": [
    "NM_006383.4(CIB2):c.272T= (p.Phe91=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515411",
        "rs": 397515411
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 78109309,
          "referenceAllele": "A",
          "start": 78109308
        }
      ],
      "hgvs": [
        "NC_000015.10:g.78109309A=",
        "CM000677.2:g.78109309A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 78401651,
          "referenceAllele": "A",
          "start": 78401650
        }
      ],
      "hgvs": [
        "NC_000015.9:g.78401651A=",
        "CM000677.1:g.78401651A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 76188706,
          "referenceAllele": "A",
          "start": 76188705
        }
      ],
      "hgvs": [
        "NC_000015.8:g.76188706A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27227,
          "referenceAllele": "T",
          "start": 27226
        }
      ],
      "hgvs": [
        "NG_033006.1:g.27227T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005344"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "T",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000258930.8:c.272T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258930.3:p.Phe91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741945",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258930.8:c.272T="
          },
          "RefSeq": {
            "hgvs": "NM_006383.4:c.272T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258930.3:p.Phe91="
          },
          "RefSeq": {
            "hgvs": "NP_006374.1:p.Phe91="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "T",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000643268.1:c.288T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494155.1:n.288T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "T",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000258930.7:c.272T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258930.3:p.Phe91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "T",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000539011.5:c.143T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442459.1:p.Phe48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000557818.1:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453654.1:n.254T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 343,
          "referenceAllele": "T",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000557846.5:c.125T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453488.1:p.Phe42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "T",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000557917.5:c.160T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453963.1:p.Leu54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "T",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000559054.1:c.143T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453377.1:p.Phe48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000559645.1:c.287T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452980.1:p.Phe96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "T",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000560618.5:c.143T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452752.1:p.Phe48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "T",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "ENST00000561190.5:c.272T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453256.1:p.Phe91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "T",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "NM_001271888.1:c.143T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258817.1:p.Phe48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "T",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "NM_001271889.1:c.125T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258818.1:p.Phe42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "T",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "NM_001301224.1:c.287T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288153.1:p.Phe96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081992257",
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "NM_006383.3:c.272T="
      ],
      "proteinEffect": {
        "hgvs": "NP_006374.1:p.Phe91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "T",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "NR_125435.1:n.480T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "XM_005254126.2:c.272T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254183.1:p.Phe91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "T",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "XM_006720374.2:c.143T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720437.1:p.Phe48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "T",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "XM_011521161.1:c.143T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519463.1:p.Phe48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "T",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "XM_005254126.3:c.272T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254183.1:p.Phe91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "T",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "XM_011521161.2:c.143T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519463.1:p.Phe48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1160,
          "referenceAllele": "T",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "XR_001751051.1:n.1160T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "T",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "NM_001271888.2:c.143T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258817.1:p.Phe48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "T",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "NM_001271889.2:c.125T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258818.1:p.Phe42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "T",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "NM_001301224.2:c.287T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288153.1:p.Phe96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081992257",
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "T",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "NM_006383.4:c.272T="
      ],
      "proteinEffect": {
        "hgvs": "NP_006374.1:p.Phe91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258930.8:c.272T="
          },
          "RefSeq": {
            "hgvs": "NM_006383.4:c.272T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258930.3:p.Phe91="
          },
          "RefSeq": {
            "hgvs": "NP_006374.1:p.Phe91="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "T",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024579",
      "geneNCBI_id": 10518,
      "geneSymbol": "CIB2",
      "hgvs": [
        "NR_125435.2:n.480T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703252"
    }
  ],
  "type": "nucleotide"
}