{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6153850",
  "communityStandardTitle": [
    "NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244689[alleleid]",
        "alleleId": 244689,
        "preferredName": "NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/245631",
        "RCV": [
          "RCV000532649",
          "RCV000726111",
          "RCV001109737",
          "RCV002429144"
        ],
        "variationId": 245631
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-68704124-G-A",
        "id": "11-68704124-G-A",
        "variant": "11:68704124 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68704124G>A?assembly=hg19",
        "id": "chr11:g.68704124G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68936656G>A?assembly=hg38",
        "id": "chr11:g.68936656G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143986510",
        "rs": 143986510
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68704124-G-A?dataset=gnomad_r2_1",
        "id": "11-68704124-G-A",
        "variant": "11:68704124 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68936656-G-A?dataset=gnomad_r3",
        "id": "11-68936656-G-A",
        "variant": "11:68936656 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68936656-G-A?dataset=gnomad_r4",
        "id": "11-68936656-G-A",
        "variant": "11:68936656 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68936656,
          "referenceAllele": "G",
          "start": 68936655
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68936656G>A",
        "CM000673.2:g.68936656G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68704124,
          "referenceAllele": "G",
          "start": 68704123
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68704124G>A",
        "CM000673.1:g.68704124G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68460700,
          "referenceAllele": "G",
          "start": 68460699
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68460700G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37806,
          "referenceAllele": "G",
          "start": 37805
        }
      ],
      "hgvs": [
        "NG_007976.1:g.37806G>A",
        "LRG_250:g.37806G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2238,
          "referenceAllele": "G",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.8:c.2176G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.4:p.Val726Met",
        "hgvsWellDefined": "ENSP00000255078.4:p.Val726Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.2176G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.2176G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Val726Met"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Val726Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674675.1:c.420G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674878.1:c.420G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2308,
          "referenceAllele": "G",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674955.1:c.*893G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502463.1:n.*893G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1664,
          "referenceAllele": "G",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675118.1:c.1664G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675389.1:n.451G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2266,
          "referenceAllele": "G",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675615.1:c.2176G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502413.1:p.Val726Met",
        "hgvsWellDefined": "ENSP00000502413.1:p.Val726Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675648.1:n.1551G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675916.1:c.420G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2921,
          "referenceAllele": "G",
          "start": 2920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676173.1:n.2921G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676182.1:c.607G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2168,
          "referenceAllele": "G",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676228.1:c.*1499G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502375.1:n.*1499G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2287,
          "referenceAllele": "G",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.7:c.2176G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.3:p.Val726Met",
        "hgvsWellDefined": "ENSP00000255078.3:p.Val726Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1935,
          "referenceAllele": "G",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000539064.5:n.1935G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000543739.5:n.1169G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483283",
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.2:c.2176G>A",
        "LRG_250t1:c.2176G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Val726Met",
        "hgvsWellDefined": "NP_002171.2:p.Val726Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2242,
          "referenceAllele": "G",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273974.2:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274031.1:p.Val389Met",
        "hgvsWellDefined": "XP_005274031.1:p.Val389Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1285,
          "referenceAllele": "G",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.2:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Val350Met",
        "hgvsWellDefined": "XP_005274032.1:p.Val350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "referenceAllele": "G",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_011544994.1:c.943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543296.1:p.Val315Met",
        "hgvsWellDefined": "XP_011543296.1:p.Val315Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.1:n.2278G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.3:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Val350Met",
        "hgvsWellDefined": "XP_005274032.1:p.Val350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2124,
          "referenceAllele": "G",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017669.2:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873158.1:p.Val389Met",
        "hgvsWellDefined": "XP_016873158.1:p.Val389Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2997,
          "referenceAllele": "G",
          "start": 2996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017670.2:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873159.1:p.Val389Met",
        "hgvsWellDefined": "XP_016873159.1:p.Val389Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2274,
          "referenceAllele": "G",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.3:n.2274G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483283",
      "coordinates": [
        {
          "allele": "A",
          "end": 2238,
          "referenceAllele": "G",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.3:c.2176G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Val726Met",
        "hgvsWellDefined": "NP_002171.2:p.Val726Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.2176G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.2176G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Val726Met"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Val726Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}