{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342139",
  "communityStandardTitle": [
    "NM_012463.4(ATP6V0A2):c.732-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34353[alleleid]",
        "alleleId": 34353,
        "preferredName": "NM_012463.4(ATP6V0A2):c.732-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21501",
        "RCV": [
          "RCV000020690",
          "RCV002281042",
          "RCV003502507"
        ],
        "variationId": 21501
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.124220076A>G?assembly=hg19",
        "id": "chr12:g.124220076A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.123735529A>G?assembly=hg38",
        "id": "chr12:g.123735529A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356753",
        "rs": 80356753
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-123735529-A-G?dataset=gnomad_r4",
        "id": "12-123735529-A-G",
        "variant": "12:123735529 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 123735529,
          "referenceAllele": "A",
          "start": 123735528
        }
      ],
      "hgvs": [
        "NC_000012.12:g.123735529A>G",
        "CM000674.2:g.123735529A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 124220076,
          "referenceAllele": "A",
          "start": 124220075
        }
      ],
      "hgvs": [
        "NC_000012.11:g.124220076A>G",
        "CM000674.1:g.124220076A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 122786029,
          "referenceAllele": "A",
          "start": 122786028
        }
      ],
      "hgvs": [
        "NC_000012.10:g.122786029A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28212,
          "referenceAllele": "A",
          "start": 28211
        }
      ],
      "hgvs": [
        "NG_012743.1:g.28212A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002522"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000330342.8:c.732-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332247.2:n.732-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747056",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330342.8:c.732-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012463.4:c.732-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332247.2:n.732-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_036595.2:n.732-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000540368.6:n.763-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 941,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000613625.5:c.732-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482236.1:n.732-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 171,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 171,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000674794.1:c.172-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774708"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 850,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000675344.1:c.732-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501953.1:n.732-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 979,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 979,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000330342.7:c.732-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332247.2:n.732-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1881,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1881,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000504192.2:c.342-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443441.1:n.342-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 941,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000540368.5:n.942-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3367,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3367,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000545059.5:n.3368-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 941,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000613625.4:c.732-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482236.1:n.732-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 979,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 979,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "NM_012463.3:c.732-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036595.2:n.732-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XM_005253563.1:c.732-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253620.1:n.732-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 297,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 297,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XM_006719317.2:c.219-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719380.1:n.219-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XR_429088.1:n.895-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XM_024448910.1:c.732-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304678.1:n.732-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 319,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 319,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XM_024448911.1:c.219-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304679.1:n.219-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "NM_012463.4:c.732-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036595.2:n.732-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668056",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330342.8:c.732-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012463.4:c.732-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332247.2:n.732-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_036595.2:n.732-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}