{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3229057865", "communityStandardTitle": [ "NM_001378183.1(PIEZO2):c.8547A= (p.Leu2849=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/878853135", "rs": 878853135 }, { "@id": "http://www.ncbi.nlm.nih.gov/snp/2510213895", "rs": 2510213895 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 10671578, "referenceAllele": "T", "start": 10671577 } ], "hgvs": [ "NC_000018.10:g.10671578T=", "CM000680.2:g.10671578T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 10671575, "referenceAllele": "T", "start": 10671574 } ], "hgvs": [ "NC_000018.9:g.10671575T=", "CM000680.1:g.10671575T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 10661575, "referenceAllele": "T", "start": 10661574 } ], "hgvs": [ "NC_000018.8:g.10661575T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "A", "end": 482185, "referenceAllele": "A", "start": 482184 } ], "hgvs": [ "NG_034005.1:g.482185A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS005672" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 8207, "referenceAllele": "A", "start": 8206 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000383408.7:c.*1649A=" ], "proteinEffect": { "hgvs": "ENSP00000372900.4:n.*1649A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS824429" }, { "coordinates": [ { "allele": "A", "end": 3290, "referenceAllele": "A", "start": 3289 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000685517.1:n.3290A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS830120" }, { "coordinates": [ { "allele": "A", "end": 2445, "referenceAllele": "A", "start": 2444 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000691469.1:n.2445A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS833234" }, { "coordinates": [ { "allele": "A", "end": 1743, "referenceAllele": "A", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000693743.1:c.1743A=" ], "proteinEffect": { "hgvs": "ENSP00000510331.1:n.1743A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834408" }, { "coordinates": [ { "allele": "A", "end": 9528, "referenceAllele": "A", "start": 9527 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000674853.1:c.8547A=" ], "proteinEffect": { "hgvs": "ENSP00000501957.1:p.Leu2849=" }, "referenceSequence": "http://reg.genome.network/refseq/RS774754", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674853.1:c.8547A=" }, "RefSeq": { "hgvs": "NM_001378183.1:c.8547A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501957.1:p.Leu2849=" }, "RefSeq": { "hgvs": "NP_001365112.1:p.Leu2849=" } } } }, { "coordinates": [ { "allele": "A", "end": 8019, "referenceAllele": "A", "start": 8018 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000302079.10:c.8019A=" ], "proteinEffect": { "hgvs": "ENSP00000303316.6:p.Leu2673=" }, "referenceSequence": "http://reg.genome.network/refseq/RS255111" }, { "coordinates": [ { "allele": "A", "end": 8388, "referenceAllele": "A", "start": 8387 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000383408.6:c.8061A=" ], "proteinEffect": { "hgvs": "ENSP00000372900.3:p.Leu2687=" }, "referenceSequence": "http://reg.genome.network/refseq/RS273964" }, { "coordinates": [ { "allele": "A", "end": 8208, "referenceAllele": "A", "start": 8207 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000503781.7:c.8208A=" ], "proteinEffect": { "hgvs": "ENSP00000421377.3:p.Leu2736=" }, "referenceSequence": "http://reg.genome.network/refseq/RS336007" }, { "coordinates": [ { "allele": "A", "end": 2219, "referenceAllele": "A", "start": 2218 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000538948.5:c.2079A=" ], "proteinEffect": { "hgvs": "ENSP00000443129.1:p.Leu693=" }, "referenceSequence": "http://reg.genome.network/refseq/RS361587" }, { "coordinates": [ { "allele": "A", "end": 8283, "referenceAllele": "A", "start": 8282 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000580640.5:c.8283A=" ], "proteinEffect": { "hgvs": "ENSP00000463094.1:p.Leu2761=" }, "referenceSequence": "http://reg.genome.network/refseq/RS386417" }, { "coordinates": [ { "allele": "A", "end": 8414, "referenceAllele": "A", "start": 8413 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000582913.5:c.8414A=" ], "proteinEffect": { "hgvs": "ENSP00000462115.1:n.8414A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS387497" }, { "coordinates": [ { "allele": "A", "end": 58, "endIntronDirection": "+", "endIntronOffset": 1112, "referenceAllele": "A", "start": 58, "startIntronDirection": "+", "startIntronOffset": 1111 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "ENST00000582937.1:c.58+1112A=" ], "proteinEffect": { "hgvs": "ENSP00000462187.1:n.58+1112A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS387507" }, { "@id": "http://reg.genome.network/allele/PA3085579514", "coordinates": [ { "allele": "A", "end": 8382, "referenceAllele": "A", "start": 8381 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "NM_022068.3:c.8208A=" ], "proteinEffect": { "hgvs": "NP_071351.2:p.Leu2736=" }, "referenceSequence": "http://reg.genome.network/refseq/RS037171" }, { "coordinates": [ { "allele": "A", "end": 8452, "referenceAllele": "A", "start": 8451 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "XM_011525723.1:c.8340A=" ], "proteinEffect": { "hgvs": "XP_011524025.1:p.Leu2780=" }, "referenceSequence": "http://reg.genome.network/refseq/RS092841" }, { "coordinates": [ { "allele": "A", "end": 8395, "referenceAllele": "A", "start": 8394 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "XM_011525724.1:c.8283A=" ], "proteinEffect": { "hgvs": "XP_011524026.1:p.Leu2761=" }, "referenceSequence": "http://reg.genome.network/refseq/RS092842" }, { "coordinates": [ { "allele": "A", "end": 8362, "referenceAllele": "A", "start": 8361 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "XM_011525725.1:c.8250A=" ], "proteinEffect": { "hgvs": "XP_011524027.1:p.Leu2750=" }, "referenceSequence": "http://reg.genome.network/refseq/RS092843" }, { "coordinates": [ { "allele": "A", "end": 8269, "referenceAllele": "A", "start": 8268 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "XM_011525726.1:c.8157A=" ], "proteinEffect": { "hgvs": "XP_011524028.1:p.Leu2719=" }, "referenceSequence": "http://reg.genome.network/refseq/RS092844" }, { "coordinates": [ { "allele": "A", "end": 9337, "referenceAllele": "A", "start": 9336 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "XM_011525723.3:c.8340A=" ], "proteinEffect": { "hgvs": "XP_011524025.1:p.Leu2780=" }, "referenceSequence": "http://reg.genome.network/refseq/RS547984" }, { "coordinates": [ { "allele": "A", "end": 9280, "referenceAllele": "A", "start": 9279 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "XM_011525724.3:c.8283A=" ], "proteinEffect": { "hgvs": "XP_011524026.1:p.Leu2761=" }, "referenceSequence": "http://reg.genome.network/refseq/RS547985" }, { "coordinates": [ { "allele": "A", "end": 9247, "referenceAllele": "A", "start": 9246 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "XM_011525725.3:c.8250A=" ], "proteinEffect": { "hgvs": "XP_011524027.1:p.Leu2750=" }, "referenceSequence": "http://reg.genome.network/refseq/RS547986" }, { "coordinates": [ { "allele": "A", "end": 9154, "referenceAllele": "A", "start": 9153 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "XM_011525726.3:c.8157A=" ], "proteinEffect": { "hgvs": "XP_011524028.1:p.Leu2719=" }, "referenceSequence": "http://reg.genome.network/refseq/RS547987" }, { "coordinates": [ { "allele": "A", "end": 9298, "referenceAllele": "A", "start": 9297 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "XM_017025918.2:c.8301A=" ], "proteinEffect": { "hgvs": "XP_016881407.1:p.Leu2767=" }, "referenceSequence": "http://reg.genome.network/refseq/RS576151" }, { "coordinates": [ { "allele": "A", "end": 9528, "referenceAllele": "A", "start": 9527 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "NM_001378183.1:c.8547A=" ], "proteinEffect": { "hgvs": "NP_001365112.1:p.Leu2849=" }, "referenceSequence": "http://reg.genome.network/refseq/RS721542", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674853.1:c.8547A=" }, "RefSeq": { "hgvs": "NM_001378183.1:c.8547A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501957.1:p.Leu2849=" }, "RefSeq": { "hgvs": "NP_001365112.1:p.Leu2849=" } } } }, { "@id": "http://reg.genome.network/allele/PA3085579514", "coordinates": [ { "allele": "A", "end": 9189, "referenceAllele": "A", "start": 9188 } ], "gene": "http://reg.genome.network/gene/GN026270", "geneNCBI_id": 63895, "geneSymbol": "PIEZO2", "hgvs": [ "NM_022068.4:c.8208A=" ], "proteinEffect": { "hgvs": "NP_071351.2:p.Leu2736=" }, "referenceSequence": "http://reg.genome.network/refseq/RS728563" } ], "type": "nucleotide" }