{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA249155",
  "communityStandardTitle": [
    "NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=215437[alleleid]",
        "alleleId": 215437,
        "preferredName": "NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218603",
        "RCV": [
          "RCV000202957",
          "RCV000330776",
          "RCV000528045",
          "RCV000767054",
          "RCV001173346",
          "RCV001336447",
          "RCV002399756"
        ],
        "variationId": 218603
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-68682346-C-G",
        "id": "11-68682346-C-G",
        "variant": "11:68682346 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68682346C>G?assembly=hg19",
        "id": "chr11:g.68682346C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68914878C>G?assembly=hg38",
        "id": "chr11:g.68914878C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148095551",
        "rs": 148095551
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68682346-C-G?dataset=gnomad_r2_1",
        "id": "11-68682346-C-G",
        "variant": "11:68682346 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68914878-C-G?dataset=gnomad_r3",
        "id": "11-68914878-C-G",
        "variant": "11:68914878 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68914878-C-G?dataset=gnomad_r4",
        "id": "11-68914878-C-G",
        "variant": "11:68914878 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68914878,
          "referenceAllele": "C",
          "start": 68914877
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68914878C>G",
        "CM000673.2:g.68914878C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68682346,
          "referenceAllele": "C",
          "start": 68682345
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68682346C>G",
        "CM000673.1:g.68682346C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68438922,
          "referenceAllele": "C",
          "start": 68438921
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68438922C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16028,
          "referenceAllele": "C",
          "start": 16027
        }
      ],
      "hgvs": [
        "NG_007976.1:g.16028C>G",
        "LRG_250:g.16028C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.8:c.767C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.4:p.Ala256Gly",
        "hgvsWellDefined": "ENSP00000255078.4:p.Ala256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.767C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.767C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Ala256Gly"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Ala256Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000539224.2:c.896C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759589"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674955.1:c.767C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502463.1:p.Ala256Gly",
        "hgvsWellDefined": "ENSP00000502463.1:p.Ala256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675118.1:c.114C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 56,
          "referenceAllele": "C",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675119.1:c.56C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501861.1:p.Ala19Gly",
        "hgvsWellDefined": "ENSP00000501861.1:p.Ala19Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 56,
          "referenceAllele": "C",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675305.1:c.56C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502365.1:p.Ala19Gly",
        "hgvsWellDefined": "ENSP00000502365.1:p.Ala19Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 56,
          "referenceAllele": "C",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675464.1:c.56C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502650.1:p.Ala19Gly",
        "hgvsWellDefined": "ENSP00000502650.1:p.Ala19Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 857,
          "referenceAllele": "C",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675615.1:c.767C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502413.1:p.Ala256Gly",
        "hgvsWellDefined": "ENSP00000502413.1:p.Ala256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675683.1:c.154C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676173.1:n.811C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676228.1:c.*90C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502375.1:n.*90C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81,
          "referenceAllele": "C",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676239.1:n.81C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.7:c.767C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.3:p.Ala256Gly",
        "hgvsWellDefined": "ENSP00000255078.3:p.Ala256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000539224.1:c.*90C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440465.1:n.*90C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA354678",
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.2:c.767C>G",
        "LRG_250t1:c.767C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Ala256Gly",
        "hgvsWellDefined": "NP_002171.2:p.Ala256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 833,
          "referenceAllele": "C",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273974.2:c.-245C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274031.1:n.-245C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273976.1:c.767C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274033.1:p.Ala256Gly",
        "hgvsWellDefined": "XP_005274033.1:p.Ala256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_247198.1:n.869C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.1:n.869C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273976.2:c.767C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274033.1:p.Ala256Gly",
        "hgvsWellDefined": "XP_005274033.1:p.Ala256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017669.2:c.-245C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873158.1:n.-245C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569798"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017670.2:c.-245C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873159.1:n.-245C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017671.2:c.767C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873160.1:p.Ala256Gly",
        "hgvsWellDefined": "XP_016873160.1:p.Ala256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.3:n.865C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA354678",
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.3:c.767C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Ala256Gly",
        "hgvsWellDefined": "NP_002171.2:p.Ala256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.767C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.767C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Ala256Gly"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Ala256Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}