{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA387758049", "communityStandardTitle": [ "NM_000059.4(BRCA2):c.9177A>T (p.Lys3059Asn)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32954203A>T?assembly=hg19", "id": "chr13:g.32954203A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32380066A>T?assembly=hg38", "id": "chr13:g.32380066A>T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 32380066, "referenceAllele": "A", "start": 32380065 } ], "hgvs": [ "NC_000013.11:g.32380066A>T", "CM000675.2:g.32380066A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 32954203, "referenceAllele": "A", "start": 32954202 } ], "hgvs": [ "NC_000013.10:g.32954203A>T", "CM000675.1:g.32954203A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 31852203, "referenceAllele": "A", "start": 31852202 } ], "hgvs": [ "NC_000013.9:g.31852203A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 69587, "referenceAllele": "A", "start": 69586 } ], "hgvs": [ "NG_012772.3:g.69587A>T", "LRG_293:g.69587A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002532" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 9376, "referenceAllele": "A", "start": 9375 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000470094.2:c.9177A>T" ], "proteinEffect": { "hgvs": "ENSP00000434898.2:p.Lys3059Asn", "hgvsWellDefined": "ENSP00000434898.2:p.Lys3059Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914116" }, { "coordinates": [ { "allele": "T", "end": 9440, "referenceAllele": "A", "start": 9439 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000528762.2:c.*544A>T" ], "proteinEffect": { "hgvs": "ENSP00000433168.2:n.*544A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914230" }, { "coordinates": [ { "allele": "T", "end": 9375, "referenceAllele": "A", "start": 9374 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000530893.7:c.8808A>T" ], "proteinEffect": { "hgvs": "ENSP00000499438.2:p.Lys2936Asn", "hgvsWellDefined": "ENSP00000499438.2:p.Lys2936Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914239" }, { "coordinates": [ { "allele": "T", "end": 9689, "referenceAllele": "A", "start": 9688 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.2:c.*739A>T" ], "proteinEffect": { "hgvs": "ENSP00000499570.2:n.*739A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914440" }, { "coordinates": [ { "allele": "T", "end": 9376, "referenceAllele": "A", "start": 9375 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000666593.2:c.9177A>T" ], "proteinEffect": { "hgvs": "ENSP00000499256.2:p.Lys3059Asn", "hgvsWellDefined": "ENSP00000499256.2:p.Lys3059Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914441" }, { "coordinates": [ { "allele": "T", "end": 9325, "referenceAllele": "A", "start": 9324 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.2:c.9126A>T" ], "proteinEffect": { "hgvs": "ENSP00000514856.2:p.Lys3042Asn", "hgvsWellDefined": "ENSP00000514856.2:p.Lys3042Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914479" }, { "coordinates": [ { "allele": "T", "end": 1593, "referenceAllele": "A", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.1:c.1593A>T" ], "proteinEffect": { "hgvs": "ENSP00000514856.1:p.Lys531Asn", "hgvsWellDefined": "ENSP00000514856.1:p.Lys531Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS911047" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "A", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700203.1:n.1304A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911048" }, { "coordinates": [ { "allele": "T", "end": 9376, "referenceAllele": "A", "start": 9375 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.8:c.9177A>T" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Lys3059Asn", "hgvsWellDefined": "ENSP00000369497.3:p.Lys3059Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS752343", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.9177A>T" }, "RefSeq": { "hgvs": "NM_000059.4:c.9177A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Lys3059Asn" }, "RefSeq": { "hgvs": "NP_000050.3:p.Lys3059Asn" } } } }, { "coordinates": [ { "allele": "T", "end": 9276, "referenceAllele": "A", "start": 9275 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.6:c.9177A>T" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Lys3059Asn", "hgvsWellDefined": "ENSP00000439902.1:p.Lys3059Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS759772" }, { "coordinates": [ { "allele": "T", "end": 9185, "referenceAllele": "A", "start": 9184 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.2:c.9185A>T" ], "proteinEffect": { "hgvs": "ENSP00000506251.1:n.9185A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS761959" }, { "coordinates": [ { "allele": "T", "end": 2055, "referenceAllele": "A", "start": 2054 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.1:c.2055A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772907" }, { "coordinates": [ { "allele": "T", "end": 60, "referenceAllele": "A", "start": 59 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000666593.1:c.60A>T" ], "proteinEffect": { "hgvs": "ENSP00000499256.1:p.Lys20Asn", "hgvsWellDefined": "ENSP00000499256.1:p.Lys20Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS772947" }, { "coordinates": [ { "allele": "T", "end": 9302, "referenceAllele": "A", "start": 9301 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000680887.1:c.9177A>T" ], "proteinEffect": { "hgvs": "ENSP00000505508.1:p.Lys3059Asn", "hgvsWellDefined": "ENSP00000505508.1:p.Lys3059Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS780501" }, { "coordinates": [ { "allele": "T", "end": 9410, "referenceAllele": "A", "start": 9409 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.7:c.9177A>T" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Lys3059Asn", "hgvsWellDefined": "ENSP00000369497.3:p.Lys3059Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247169" }, { "coordinates": [ { "allele": "T", "end": 134, "referenceAllele": "A", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000470094.1:c.134A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312617" }, { "coordinates": [ { "allele": "T", "end": 9404, "referenceAllele": "A", "start": 9403 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.5:c.9177A>T" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Lys3059Asn", "hgvsWellDefined": "ENSP00000439902.1:p.Lys3059Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247233" }, { "@id": "http://reg.genome.network/allele/PA195145", "coordinates": [ { "allele": "T", "end": 9404, "referenceAllele": "A", "start": 9403 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.3:c.9177A>T", "LRG_293t1:c.9177A>T" ], "proteinEffect": { "hgvs": "NP_000050.2:p.Lys3059Asn", "hgvsWellDefined": "NP_000050.2:p.Lys3059Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006123" }, { "coordinates": [ { "allele": "T", "end": 9500, "referenceAllele": "A", "start": 9499 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535203.1:c.9177A>T" ], "proteinEffect": { "hgvs": "XP_011533505.1:p.Lys3059Asn", "hgvsWellDefined": "XP_011533505.1:p.Lys3059Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS102211" }, { "coordinates": [ { "allele": "T", "end": 9314, "referenceAllele": "A", "start": 9313 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535204.1:c.9081A>T" ], "proteinEffect": { "hgvs": "XP_011533506.1:p.Lys3027Asn", "hgvsWellDefined": "XP_011533506.1:p.Lys3027Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS102212" }, { "@id": "http://reg.genome.network/allele/PA2573058834", "coordinates": [ { "allele": "T", "end": 9376, "referenceAllele": "A", "start": 9375 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.4:c.9177A>T" ], "proteinEffect": { "hgvs": "NP_000050.3:p.Lys3059Asn", "hgvsWellDefined": "NP_000050.3:p.Lys3059Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS710794", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.9177A>T" }, "RefSeq": { "hgvs": "NM_000059.4:c.9177A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Lys3059Asn" }, "RefSeq": { "hgvs": "NP_000050.3:p.Lys3059Asn" } } } } ], "type": "nucleotide" }