{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA352527595",
  "communityStandardTitle": [
    "NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=615343[alleleid]",
        "alleleId": 615343,
        "preferredName": "NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627099",
        "RCV": [
          "RCV000851830"
        ],
        "variationId": 627099
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.47045362G>A?assembly=hg19",
        "id": "chr3:g.47045362G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.47003872G>A?assembly=hg38",
        "id": "chr3:g.47003872G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1575619957",
        "rs": 1575619957
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-47003872-G-A?dataset=gnomad_r4",
        "id": "3-47003872-G-A",
        "variant": "3:47003872 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 47003872,
          "referenceAllele": "G",
          "start": 47003871
        }
      ],
      "hgvs": [
        "NC_000003.12:g.47003872G>A",
        "CM000665.2:g.47003872G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 47045362,
          "referenceAllele": "G",
          "start": 47045361
        }
      ],
      "hgvs": [
        "NC_000003.11:g.47045362G>A",
        "CM000665.1:g.47045362G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 47020366,
          "referenceAllele": "G",
          "start": 47020365
        }
      ],
      "hgvs": [
        "NC_000003.10:g.47020366G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29190,
          "referenceAllele": "G",
          "start": 29189
        }
      ],
      "hgvs": [
        "NG_031914.1:g.29190G>A",
        "LRG_568:g.29190G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005025"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5973,
          "referenceAllele": "G",
          "start": 5972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "ENST00000450053.8:c.5777G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415034.2:p.Cys1926Tyr",
        "hgvsWellDefined": "ENSP00000415034.2:p.Cys1926Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756262",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450053.8:c.5777G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015175.3:c.5777G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415034.2:p.Cys1926Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_055990.1:p.Cys1926Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5733,
          "referenceAllele": "G",
          "start": 5732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "ENST00000651747.1:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499216.1:p.Cys1892Tyr",
        "hgvsWellDefined": "ENSP00000499216.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "ENST00000416683.5:c.3640G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "ENST00000443829.5:c.882G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS297530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5956,
          "referenceAllele": "G",
          "start": 5955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "ENST00000450053.7:c.5777G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415034.2:p.Cys1926Tyr",
        "hgvsWellDefined": "ENSP00000415034.2:p.Cys1926Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915977301",
      "coordinates": [
        {
          "allele": "A",
          "end": 5956,
          "referenceAllele": "G",
          "start": 5955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_015175.2:c.5777G>A",
        "LRG_568t1:c.5777G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055990.1:p.Cys1926Tyr",
        "hgvsWellDefined": "NP_055990.1:p.Cys1926Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5728,
          "referenceAllele": "G",
          "start": 5727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_005264992.2:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265049.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_005265049.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2372,
          "referenceAllele": "G",
          "start": 2371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_005264993.2:c.2249G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265050.1:p.Cys750Tyr",
        "hgvsWellDefined": "XP_005265050.1:p.Cys750Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_006713072.2:c.5696G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713135.1:p.Cys1899Tyr",
        "hgvsWellDefined": "XP_006713135.1:p.Cys1899Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5809,
          "referenceAllele": "G",
          "start": 5808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533532.1:c.5756G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531834.1:p.Cys1919Tyr",
        "hgvsWellDefined": "XP_011531834.1:p.Cys1919Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5953,
          "referenceAllele": "G",
          "start": 5952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533533.1:c.5777G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531835.1:p.Cys1926Tyr",
        "hgvsWellDefined": "XP_011531835.1:p.Cys1926Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5584,
          "referenceAllele": "G",
          "start": 5583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533534.1:c.5408G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531836.1:p.Cys1803Tyr",
        "hgvsWellDefined": "XP_011531836.1:p.Cys1803Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6530,
          "referenceAllele": "G",
          "start": 6529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533535.1:c.5237G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531837.1:p.Cys1746Tyr",
        "hgvsWellDefined": "XP_011531837.1:p.Cys1746Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5742,
          "referenceAllele": "G",
          "start": 5741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533536.1:c.5123G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531838.1:p.Cys1708Tyr",
        "hgvsWellDefined": "XP_011531838.1:p.Cys1708Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4800,
          "referenceAllele": "G",
          "start": 4799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533537.1:c.4685G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531839.1:p.Cys1562Tyr",
        "hgvsWellDefined": "XP_011531839.1:p.Cys1562Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5953,
          "referenceAllele": "G",
          "start": 5952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XR_940397.1:n.5953G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828167361",
      "coordinates": [
        {
          "allele": "A",
          "end": 5733,
          "referenceAllele": "G",
          "start": 5732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_001365116.1:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352045.1:p.Cys1892Tyr",
        "hgvsWellDefined": "NP_001352045.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_006713072.3:c.5696G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713135.1:p.Cys1899Tyr",
        "hgvsWellDefined": "XP_006713135.1:p.Cys1899Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5953,
          "referenceAllele": "G",
          "start": 5952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533533.2:c.5777G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531835.1:p.Cys1926Tyr",
        "hgvsWellDefined": "XP_011531835.1:p.Cys1926Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5953,
          "referenceAllele": "G",
          "start": 5952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006010.1:c.5777G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861499.1:p.Cys1926Tyr",
        "hgvsWellDefined": "XP_016861499.1:p.Cys1926Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5809,
          "referenceAllele": "G",
          "start": 5808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006011.1:c.5756G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861500.1:p.Cys1919Tyr",
        "hgvsWellDefined": "XP_016861500.1:p.Cys1919Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006012.1:c.5696G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861501.1:p.Cys1899Tyr",
        "hgvsWellDefined": "XP_016861501.1:p.Cys1899Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5953,
          "referenceAllele": "G",
          "start": 5952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006013.1:c.5777G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861502.1:p.Cys1926Tyr",
        "hgvsWellDefined": "XP_016861502.1:p.Cys1926Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5728,
          "referenceAllele": "G",
          "start": 5727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006014.1:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861503.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_016861503.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5584,
          "referenceAllele": "G",
          "start": 5583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006015.1:c.5408G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861504.1:p.Cys1803Tyr",
        "hgvsWellDefined": "XP_016861504.1:p.Cys1803Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6530,
          "referenceAllele": "G",
          "start": 6529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006016.1:c.5237G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861505.1:p.Cys1746Tyr",
        "hgvsWellDefined": "XP_016861505.1:p.Cys1746Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2372,
          "referenceAllele": "G",
          "start": 2371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006017.1:c.2249G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861506.1:p.Cys750Tyr",
        "hgvsWellDefined": "XP_016861506.1:p.Cys750Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5953,
          "referenceAllele": "G",
          "start": 5952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XR_940397.2:n.5953G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828167361",
      "coordinates": [
        {
          "allele": "A",
          "end": 5733,
          "referenceAllele": "G",
          "start": 5732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_001365116.2:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352045.1:p.Cys1892Tyr",
        "hgvsWellDefined": "NP_001352045.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915977301",
      "coordinates": [
        {
          "allele": "A",
          "end": 5973,
          "referenceAllele": "G",
          "start": 5972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_015175.3:c.5777G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055990.1:p.Cys1926Tyr",
        "hgvsWellDefined": "NP_055990.1:p.Cys1926Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450053.8:c.5777G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015175.3:c.5777G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415034.2:p.Cys1926Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_055990.1:p.Cys1926Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}