{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10575803",
  "communityStandardTitle": [
    "NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214088[alleleid]",
        "alleleId": 214088,
        "preferredName": "NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217448",
        "RCV": [
          "RCV000240656",
          "RCV000624850",
          "RCV000810966"
        ],
        "variationId": 217448
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68671422T>C?assembly=hg19",
        "id": "chr11:g.68671422T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68903954T>C?assembly=hg38",
        "id": "chr11:g.68903954T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886037759",
        "rs": 886037759
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68903954-T-C?dataset=gnomad_r4",
        "id": "11-68903954-T-C",
        "variant": "11:68903954 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 68903954,
          "referenceAllele": "T",
          "start": 68903953
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68903954T>C",
        "CM000673.2:g.68903954T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 68671422,
          "referenceAllele": "T",
          "start": 68671421
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68671422T>C",
        "CM000673.1:g.68671422T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 68427998,
          "referenceAllele": "T",
          "start": 68427997
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68427998T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5104,
          "referenceAllele": "T",
          "start": 5103
        }
      ],
      "hgvs": [
        "NG_007976.1:g.5104T>C",
        "LRG_250:g.5104T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.8:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.4:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000255078.4:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Met1Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22,
          "referenceAllele": "T",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674955.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502463.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000502463.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 92,
          "referenceAllele": "T",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675615.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502413.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000502413.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676173.1:n.42T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 92,
          "referenceAllele": "T",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676228.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502375.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000502375.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "referenceAllele": "T",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.7:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.3:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000255078.3:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58,
          "referenceAllele": "T",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000539224.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440465.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000440465.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000544541.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443343.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000443343.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29,
          "referenceAllele": "T",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000545146.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456366.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000456366.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364954"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483150",
      "coordinates": [
        {
          "allele": "C",
          "end": 104,
          "referenceAllele": "T",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.2:c.2T>C",
        "LRG_250t1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Met1Thr",
        "hgvsWellDefined": "NP_002171.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273974.2:c.-1014T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274031.1:n.-1014T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104,
          "referenceAllele": "T",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273976.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274033.1:p.Met1Thr",
        "hgvsWellDefined": "XP_005274033.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104,
          "referenceAllele": "T",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_247198.1:n.104T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104,
          "referenceAllele": "T",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.1:n.104T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "referenceAllele": "T",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273976.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274033.1:p.Met1Thr",
        "hgvsWellDefined": "XP_005274033.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48,
          "referenceAllele": "T",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017669.2:c.-912T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873158.1:n.-912T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "referenceAllele": "T",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017671.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873160.1:p.Met1Thr",
        "hgvsWellDefined": "XP_016873160.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "referenceAllele": "T",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.3:n.100T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483150",
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.3:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Met1Thr",
        "hgvsWellDefined": "NP_002171.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Met1Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}