{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA387758230", "communityStandardTitle": [ "NM_000059.4(BRCA2):c.9195T>G (p.Phe3065Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32954221T>G?assembly=hg19", "id": "chr13:g.32954221T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32380084T>G?assembly=hg38", "id": "chr13:g.32380084T>G" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "G", "end": 32380084, "referenceAllele": "T", "start": 32380083 } ], "hgvs": [ "NC_000013.11:g.32380084T>G", "CM000675.2:g.32380084T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "G", "end": 32954221, "referenceAllele": "T", "start": 32954220 } ], "hgvs": [ "NC_000013.10:g.32954221T>G", "CM000675.1:g.32954221T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "G", "end": 31852221, "referenceAllele": "T", "start": 31852220 } ], "hgvs": [ "NC_000013.9:g.31852221T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "G", "end": 69605, "referenceAllele": "T", "start": 69604 } ], "hgvs": [ "NG_012772.3:g.69605T>G", "LRG_293:g.69605T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002532" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 9394, "referenceAllele": "T", "start": 9393 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000470094.2:c.9195T>G" ], "proteinEffect": { "hgvs": "ENSP00000434898.2:p.Phe3065Leu", "hgvsWellDefined": "ENSP00000434898.2:p.Phe3065Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914116" }, { "coordinates": [ { "allele": "G", "end": 9458, "referenceAllele": "T", "start": 9457 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000528762.2:c.*562T>G" ], "proteinEffect": { "hgvs": "ENSP00000433168.2:n.*562T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914230" }, { "coordinates": [ { "allele": "G", "end": 9393, "referenceAllele": "T", "start": 9392 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000530893.7:c.8826T>G" ], "proteinEffect": { "hgvs": "ENSP00000499438.2:p.Phe2942Leu", "hgvsWellDefined": "ENSP00000499438.2:p.Phe2942Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914239" }, { "coordinates": [ { "allele": "G", "end": 9707, "referenceAllele": "T", "start": 9706 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.2:c.*757T>G" ], "proteinEffect": { "hgvs": "ENSP00000499570.2:n.*757T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914440" }, { "coordinates": [ { "allele": "G", "end": 9394, "referenceAllele": "T", "start": 9393 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000666593.2:c.9195T>G" ], "proteinEffect": { "hgvs": "ENSP00000499256.2:p.Phe3065Leu", "hgvsWellDefined": "ENSP00000499256.2:p.Phe3065Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914441" }, { "coordinates": [ { "allele": "G", "end": 9343, "referenceAllele": "T", "start": 9342 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.2:c.9144T>G" ], "proteinEffect": { "hgvs": "ENSP00000514856.2:p.Phe3048Leu", "hgvsWellDefined": "ENSP00000514856.2:p.Phe3048Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914479" }, { "coordinates": [ { "allele": "G", "end": 1611, "referenceAllele": "T", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.1:c.1611T>G" ], "proteinEffect": { "hgvs": "ENSP00000514856.1:p.Phe537Leu", "hgvsWellDefined": "ENSP00000514856.1:p.Phe537Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS911047" }, { "coordinates": [ { "allele": "G", "end": 1322, "referenceAllele": "T", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700203.1:n.1322T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911048" }, { "coordinates": [ { "allele": "G", "end": 9394, "referenceAllele": "T", "start": 9393 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.8:c.9195T>G" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Phe3065Leu", "hgvsWellDefined": "ENSP00000369497.3:p.Phe3065Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS752343", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.9195T>G" }, "RefSeq": { "hgvs": "NM_000059.4:c.9195T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Phe3065Leu" }, "RefSeq": { "hgvs": "NP_000050.3:p.Phe3065Leu" } } } }, { "coordinates": [ { "allele": "G", "end": 9294, "referenceAllele": "T", "start": 9293 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.6:c.9195T>G" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Phe3065Leu", "hgvsWellDefined": "ENSP00000439902.1:p.Phe3065Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS759772" }, { "coordinates": [ { "allele": "G", "end": 9203, "referenceAllele": "T", "start": 9202 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.2:c.9203T>G" ], "proteinEffect": { "hgvs": "ENSP00000506251.1:n.9203T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS761959" }, { "coordinates": [ { "allele": "G", "end": 2073, "referenceAllele": "T", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.1:c.2073T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS772907" }, { "coordinates": [ { "allele": "G", "end": 78, "referenceAllele": "T", "start": 77 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000666593.1:c.78T>G" ], "proteinEffect": { "hgvs": "ENSP00000499256.1:p.Phe26Leu", "hgvsWellDefined": "ENSP00000499256.1:p.Phe26Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS772947" }, { "coordinates": [ { "allele": "G", "end": 9320, "referenceAllele": "T", "start": 9319 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000680887.1:c.9195T>G" ], "proteinEffect": { "hgvs": "ENSP00000505508.1:p.Phe3065Leu", "hgvsWellDefined": "ENSP00000505508.1:p.Phe3065Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS780501" }, { "coordinates": [ { "allele": "G", "end": 9428, "referenceAllele": "T", "start": 9427 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.7:c.9195T>G" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Phe3065Leu", "hgvsWellDefined": "ENSP00000369497.3:p.Phe3065Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247169" }, { "coordinates": [ { "allele": "G", "end": 152, "referenceAllele": "T", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000470094.1:c.152T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS312617" }, { "coordinates": [ { "allele": "G", "end": 9422, "referenceAllele": "T", "start": 9421 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.5:c.9195T>G" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Phe3065Leu", "hgvsWellDefined": "ENSP00000439902.1:p.Phe3065Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247233" }, { "@id": "http://reg.genome.network/allele/PA260998", "coordinates": [ { "allele": "G", "end": 9422, "referenceAllele": "T", "start": 9421 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.3:c.9195T>G", "LRG_293t1:c.9195T>G" ], "proteinEffect": { "hgvs": "NP_000050.2:p.Phe3065Leu", "hgvsWellDefined": "NP_000050.2:p.Phe3065Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006123" }, { "coordinates": [ { "allele": "G", "end": 9518, "referenceAllele": "T", "start": 9517 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535203.1:c.9195T>G" ], "proteinEffect": { "hgvs": "XP_011533505.1:p.Phe3065Leu", "hgvsWellDefined": "XP_011533505.1:p.Phe3065Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS102211" }, { "coordinates": [ { "allele": "G", "end": 9332, "referenceAllele": "T", "start": 9331 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535204.1:c.9099T>G" ], "proteinEffect": { "hgvs": "XP_011533506.1:p.Phe3033Leu", "hgvsWellDefined": "XP_011533506.1:p.Phe3033Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS102212" }, { "@id": "http://reg.genome.network/allele/PA1139683421", "coordinates": [ { "allele": "G", "end": 9394, "referenceAllele": "T", "start": 9393 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.4:c.9195T>G" ], "proteinEffect": { "hgvs": "NP_000050.3:p.Phe3065Leu", "hgvsWellDefined": "NP_000050.3:p.Phe3065Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS710794", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.9195T>G" }, "RefSeq": { "hgvs": "NM_000059.4:c.9195T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Phe3065Leu" }, "RefSeq": { "hgvs": "NP_000050.3:p.Phe3065Leu" } } } } ], "type": "nucleotide" }