{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6240180",
  "communityStandardTitle": [
    "NM_016156.6(MTMR2):c.832C>A (p.Gln278Lys)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-95582999-G-T",
        "id": "11-95582999-G-T",
        "variant": "11:95582999 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.95582999G>T?assembly=hg19",
        "id": "chr11:g.95582999G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.95849835G>T?assembly=hg38",
        "id": "chr11:g.95849835G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757563721",
        "rs": 757563721
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-95849835-G-T?dataset=gnomad_r4",
        "id": "11-95849835-G-T",
        "variant": "11:95849835 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 95849835,
          "referenceAllele": "G",
          "start": 95849834
        }
      ],
      "hgvs": [
        "NC_000011.10:g.95849835G>T",
        "CM000673.2:g.95849835G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 95582999,
          "referenceAllele": "G",
          "start": 95582998
        }
      ],
      "hgvs": [
        "NC_000011.9:g.95582999G>T",
        "CM000673.1:g.95582999G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 95222647,
          "referenceAllele": "G",
          "start": 95222646
        }
      ],
      "hgvs": [
        "NC_000011.8:g.95222647G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79373,
          "referenceAllele": "C",
          "start": 79372
        }
      ],
      "hgvs": [
        "NG_008333.1:g.79373C>A",
        "LRG_257:g.79373C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001034"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000346299.10:c.832C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345752.6:p.Gln278Lys",
        "hgvsWellDefined": "ENSP00000345752.6:p.Gln278Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748315",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346299.10:c.832C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016156.6:c.832C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345752.6:p.Gln278Lys"
          },
          "RefSeq": {
            "hgvs": "NP_057240.3:p.Gln278Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000393223.8:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376915.3:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000376915.3:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000444541.7:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396020.2:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000396020.2:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000470293.6:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502515.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502515.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000481642.6:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502505.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502505.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000484818.6:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501963.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501963.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000495134.6:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501894.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501894.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "C",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000497683.6:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501753.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501753.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000674528.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501567.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501567.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "referenceAllele": "C",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000674610.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501688.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501688.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "C",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000674901.1:n.1970C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1069,
          "referenceAllele": "C",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000674924.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502433.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502433.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "C",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000674950.1:c.*1021C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502425.1:n.*1021C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000674968.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502567.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502567.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000674974.1:c.*767C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502337.1:n.*767C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1069,
          "referenceAllele": "C",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000674989.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502829.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502829.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675022.1:c.646C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502722.1:p.Gln216Lys",
        "hgvsWellDefined": "ENSP00000502722.1:p.Gln216Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675024.1:n.2003C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "C",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675030.1:c.*4001C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502386.1:n.*4001C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1991,
          "referenceAllele": "C",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675034.1:n.1991C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675174.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502032.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502032.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1121,
          "referenceAllele": "C",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675196.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501867.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501867.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675237.1:n.1995C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "C",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675288.1:c.484C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501942.1:p.Gln162Lys",
        "hgvsWellDefined": "ENSP00000501942.1:p.Gln162Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675320.1:c.*629C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502076.1:n.*629C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675362.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501989.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501989.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1793,
          "referenceAllele": "C",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675413.1:n.1793C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675438.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502388.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502388.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675454.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501781.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501781.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675477.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501751.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501751.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1238,
          "referenceAllele": "C",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675489.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501702.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501702.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1904,
          "referenceAllele": "C",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675495.1:n.1904C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675636.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501850.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501850.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675652.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502694.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502694.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675660.1:c.484C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502824.1:p.Gln162Lys",
        "hgvsWellDefined": "ENSP00000502824.1:p.Gln162Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1884,
          "referenceAllele": "C",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675767.1:n.1884C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675807.1:c.484C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501640.1:p.Gln162Lys",
        "hgvsWellDefined": "ENSP00000501640.1:p.Gln162Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675848.1:c.484C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502057.1:p.Gln162Lys",
        "hgvsWellDefined": "ENSP00000502057.1:p.Gln162Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675896.1:c.*745C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502487.1:n.*745C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775657"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "C",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675910.1:c.*770C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502622.1:n.*770C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675922.1:c.*723C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502168.1:n.*723C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "referenceAllele": "C",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675933.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502575.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502575.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1894,
          "referenceAllele": "C",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675957.1:n.1894C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "referenceAllele": "C",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675981.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502204.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502204.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "referenceAllele": "C",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676027.1:c.484C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502405.1:p.Gln162Lys",
        "hgvsWellDefined": "ENSP00000502405.1:p.Gln162Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676146.1:c.*443C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502583.1:n.*443C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "referenceAllele": "C",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676166.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501632.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501632.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676177.1:c.*745C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501635.1:n.*745C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1170,
          "referenceAllele": "C",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676261.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501675.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501675.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676268.1:c.*150C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502444.1:n.*150C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676272.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501601.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501601.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676378.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502736.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000502736.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676388.1:c.*572C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501866.1:n.*572C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1868,
          "referenceAllele": "C",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676393.1:n.1868C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2034,
          "referenceAllele": "C",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676432.1:n.2034C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000676440.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501926.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000501926.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000346299.9:c.832C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345752.5:p.Gln278Lys",
        "hgvsWellDefined": "ENSP00000345752.5:p.Gln278Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000352297.11:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343737.7:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000343737.7:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000393223.7:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376915.3:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000376915.3:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000409459.5:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386882.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000386882.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000444541.6:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396020.1:p.Gln206Lys",
        "hgvsWellDefined": "ENSP00000396020.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "C",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "NM_001243571.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230500.1:p.Gln206Lys",
        "hgvsWellDefined": "NP_001230500.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078020737",
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "NM_016156.5:c.832C>A",
        "LRG_257t1:c.832C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057240.3:p.Gln278Lys",
        "hgvsWellDefined": "NP_057240.3:p.Gln278Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1279,
          "referenceAllele": "C",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "NM_201278.2:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958435.1:p.Gln206Lys",
        "hgvsWellDefined": "NP_958435.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "NM_201281.2:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958438.1:p.Gln206Lys",
        "hgvsWellDefined": "NP_958438.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "XM_005274374.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274431.1:p.Gln206Lys",
        "hgvsWellDefined": "XP_005274431.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1111,
          "referenceAllele": "C",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "XM_005274375.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274432.1:p.Gln206Lys",
        "hgvsWellDefined": "XP_005274432.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "XM_006718934.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718997.1:p.Gln206Lys",
        "hgvsWellDefined": "XP_006718997.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "XM_006718935.1:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718998.1:p.Gln206Lys",
        "hgvsWellDefined": "XP_006718998.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "XM_006718936.2:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718999.1:p.Gln206Lys",
        "hgvsWellDefined": "XP_006718999.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "XM_011543058.1:c.691C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541360.1:p.Gln231Lys",
        "hgvsWellDefined": "XP_011541360.1:p.Gln231Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "XM_011543059.1:c.691C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541361.1:p.Gln231Lys",
        "hgvsWellDefined": "XP_011541361.1:p.Gln231Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "XM_005274374.3:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274431.1:p.Gln206Lys",
        "hgvsWellDefined": "XP_005274431.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1111,
          "referenceAllele": "C",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "XM_005274375.3:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274432.1:p.Gln206Lys",
        "hgvsWellDefined": "XP_005274432.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "NM_001243571.2:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230500.1:p.Gln206Lys",
        "hgvsWellDefined": "NP_001230500.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078020737",
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "NM_016156.6:c.832C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057240.3:p.Gln278Lys",
        "hgvsWellDefined": "NP_057240.3:p.Gln278Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346299.10:c.832C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016156.6:c.832C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345752.6:p.Gln278Lys"
          },
          "RefSeq": {
            "hgvs": "NP_057240.3:p.Gln278Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "NM_201278.3:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958435.1:p.Gln206Lys",
        "hgvsWellDefined": "NP_958435.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1056,
          "referenceAllele": "C",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "NM_201281.3:c.616C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958438.1:p.Gln206Lys",
        "hgvsWellDefined": "NP_958438.1:p.Gln206Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701526"
    }
  ],
  "type": "nucleotide"
}