{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366642094",
  "communityStandardTitle": [
    "NM_032415.7(CARD11):c.2644G>A (p.Asp882Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3224705[alleleid]",
        "alleleId": 3224705,
        "preferredName": "NM_032415.7(CARD11):c.2644G>A (p.Asp882Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3064501",
        "RCV": [
          "RCV003989041"
        ],
        "variationId": 3064501
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2956983C>T?assembly=hg19",
        "id": "chr7:g.2956983C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2917349C>T?assembly=hg38",
        "id": "chr7:g.2917349C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1223006535",
        "rs": 1223006535
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2956983-C-T?dataset=gnomad_r2_1",
        "id": "7-2956983-C-T",
        "variant": "7:2956983 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2917349-C-T?dataset=gnomad_r3",
        "id": "7-2917349-C-T",
        "variant": "7:2917349 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2917349-C-T?dataset=gnomad_r4",
        "id": "7-2917349-C-T",
        "variant": "7:2917349 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 2917349,
          "referenceAllele": "C",
          "start": 2917348
        }
      ],
      "hgvs": [
        "NC_000007.14:g.2917349C>T",
        "CM000669.2:g.2917349C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 2956983,
          "referenceAllele": "C",
          "start": 2956982
        }
      ],
      "hgvs": [
        "NC_000007.13:g.2956983C>T",
        "CM000669.1:g.2956983C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 2923509,
          "referenceAllele": "C",
          "start": 2923508
        }
      ],
      "hgvs": [
        "NC_000007.12:g.2923509C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 131527,
          "referenceAllele": "G",
          "start": 131526
        }
      ],
      "hgvs": [
        "NG_027759.1:g.131527G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003960"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3754,
          "referenceAllele": "G",
          "start": 3753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698637.1:n.3754G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1600,
          "referenceAllele": "G",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698652.1:n.1600G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2970,
          "referenceAllele": "G",
          "start": 2969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.9:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Asp882Asn",
        "hgvsWellDefined": "ENSP00000380150.4:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.2644G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.2644G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Asp882Asn"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Asp882Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3048,
          "referenceAllele": "G",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.8:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Asp882Asn",
        "hgvsWellDefined": "ENSP00000380150.4:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000480332.1:n.782G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741992973",
      "coordinates": [
        {
          "allele": "A",
          "end": 3048,
          "referenceAllele": "G",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.5:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Asp882Asn",
        "hgvsWellDefined": "NP_115791.3:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3042,
          "referenceAllele": "G",
          "start": 3041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515585.1:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513887.1:p.Asp882Asn",
        "hgvsWellDefined": "XP_011513887.1:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3046,
          "referenceAllele": "G",
          "start": 3045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.1:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Asp882Asn",
        "hgvsWellDefined": "XP_011513888.1:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3040,
          "referenceAllele": "G",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.1:c.2641G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Asp881Asn",
        "hgvsWellDefined": "XP_011513889.1:p.Asp881Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827247164",
      "coordinates": [
        {
          "allele": "A",
          "end": 3109,
          "referenceAllele": "G",
          "start": 3108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.1:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Asp882Asn",
        "hgvsWellDefined": "NP_001311210.1:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3077,
          "referenceAllele": "G",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.2:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Asp882Asn",
        "hgvsWellDefined": "XP_011513888.1:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3040,
          "referenceAllele": "G",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.2:c.2641G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Asp881Asn",
        "hgvsWellDefined": "XP_011513889.1:p.Asp881Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827247164",
      "coordinates": [
        {
          "allele": "A",
          "end": 3031,
          "referenceAllele": "G",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.2:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Asp882Asn",
        "hgvsWellDefined": "NP_001311210.1:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741992973",
      "coordinates": [
        {
          "allele": "A",
          "end": 2970,
          "referenceAllele": "G",
          "start": 2969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.6:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Asp882Asn",
        "hgvsWellDefined": "NP_115791.3:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827247164",
      "coordinates": [
        {
          "allele": "A",
          "end": 3031,
          "referenceAllele": "G",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.3:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Asp882Asn",
        "hgvsWellDefined": "NP_001311210.1:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741992973",
      "coordinates": [
        {
          "allele": "A",
          "end": 2970,
          "referenceAllele": "G",
          "start": 2969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.7:c.2644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Asp882Asn",
        "hgvsWellDefined": "NP_115791.3:p.Asp882Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.2644G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.2644G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Asp882Asn"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Asp882Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}