{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA252145", "communityStandardTitle": [ "NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17308[alleleid]", "alleleId": 17308, "preferredName": "NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2269", "RCV": [ "RCV000002357", "RCV000197403", "RCV000235811", "RCV000763240", "RCV000857112", "RCV001001747", "RCV002426480", "RCV002444413" ], "variationId": 2269 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.12071567G>C?assembly=hg19", "id": "chr1:g.12071567G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.12011510G>C?assembly=hg38", "id": "chr1:g.12011510G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/28940292", "rs": 28940292 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 12011510, "referenceAllele": "G", "start": 12011509 } ], "hgvs": [ "NC_000001.11:g.12011510G>C", "CM000663.2:g.12011510G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 12071567, "referenceAllele": "G", "start": 12071566 } ], "hgvs": [ "NC_000001.10:g.12071567G>C", "CM000663.1:g.12071567G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 11994154, "referenceAllele": "G", "start": 11994153 } ], "hgvs": [ "NC_000001.9:g.11994154G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "C", "end": 36330, "referenceAllele": "G", "start": 36329 } ], "hgvs": [ "NG_007945.1:g.36330G>C", "LRG_255:g.36330G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000713" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2409, "referenceAllele": "G", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000235329.10:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000235329.5:p.Trp740Ser", "hgvsWellDefined": "ENSP00000235329.5:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS740970", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000235329.10:c.2219G>C" }, "RefSeq": { "hgvs": "NM_014874.4:c.2219G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000235329.5:p.Trp740Ser" }, "RefSeq": { "hgvs": "NP_055689.1:p.Trp740Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 2582, "referenceAllele": "G", "start": 2581 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000674548.1:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000502185.1:p.Trp740Ser", "hgvsWellDefined": "ENSP00000502185.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774500" }, { "coordinates": [ { "allele": "C", "end": 2330, "referenceAllele": "G", "start": 2329 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000674658.1:c.1874G>C" ], "proteinEffect": { "hgvs": "ENSP00000502334.1:p.Trp625Ser", "hgvsWellDefined": "ENSP00000502334.1:p.Trp625Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774594" }, { "coordinates": [ { "allele": "C", "end": 2519, "referenceAllele": "G", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000674817.1:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000502151.1:p.Trp740Ser", "hgvsWellDefined": "ENSP00000502151.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774724" }, { "coordinates": [ { "allele": "C", "end": 2549, "referenceAllele": "G", "start": 2548 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000674910.1:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000501716.1:p.Trp740Ser", "hgvsWellDefined": "ENSP00000501716.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774799" }, { "coordinates": [ { "allele": "C", "end": 187, "referenceAllele": "G", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675043.1:n.187G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS774919" }, { "coordinates": [ { "allele": "C", "end": 2565, "referenceAllele": "G", "start": 2564 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675053.1:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000501646.1:p.Trp740Ser", "hgvsWellDefined": "ENSP00000501646.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774928" }, { "coordinates": [ { "allele": "C", "end": 2471, "referenceAllele": "G", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675113.1:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000502623.1:p.Trp740Ser", "hgvsWellDefined": "ENSP00000502623.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774979" }, { "coordinates": [ { "allele": "C", "end": 2782, "referenceAllele": "G", "start": 2781 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675231.1:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000502404.1:p.Trp740Ser", "hgvsWellDefined": "ENSP00000502404.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775079" }, { "coordinates": [ { "allele": "C", "end": 2629, "endIntronDirection": "+", "endIntronOffset": 1784, "referenceAllele": "G", "start": 2629, "startIntronDirection": "+", "startIntronOffset": 1783 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675298.1:c.2204+1784G>C" ], "proteinEffect": { "hgvs": "ENSP00000501839.1:n.2204+1784G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS775135" }, { "coordinates": [ { "allele": "C", "end": 2454, "referenceAllele": "G", "start": 2453 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675404.1:n.2454G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS775229" }, { "coordinates": [ { "allele": "C", "end": 2347, "referenceAllele": "G", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675483.1:n.2347G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS775299" }, { "coordinates": [ { "allele": "C", "end": 2590, "referenceAllele": "G", "start": 2589 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675512.1:c.*2221G>C" ], "proteinEffect": { "hgvs": "ENSP00000502630.1:n.*2221G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS775322" }, { "coordinates": [ { "allele": "C", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675528.1:n.1710G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS775334" }, { "coordinates": [ { "allele": "C", "end": 2776, "referenceAllele": "G", "start": 2775 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675817.1:c.2351G>C" ], "proteinEffect": { "hgvs": "ENSP00000502422.1:p.Trp784Ser", "hgvsWellDefined": "ENSP00000502422.1:p.Trp784Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775587" }, { "coordinates": [ { "allele": "C", "end": 2579, "referenceAllele": "G", "start": 2578 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675872.1:n.2579G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS775636" }, { "coordinates": [ { "allele": "C", "end": 2499, "referenceAllele": "G", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675919.1:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000501776.1:p.Trp740Ser", "hgvsWellDefined": "ENSP00000501776.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775676" }, { "coordinates": [ { "allele": "C", "end": 2725, "referenceAllele": "G", "start": 2724 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675959.1:n.2725G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS775709" }, { "coordinates": [ { "allele": "C", "end": 2455, "referenceAllele": "G", "start": 2454 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675987.1:c.*192G>C" ], "proteinEffect": { "hgvs": "ENSP00000502145.1:n.*192G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS775732" }, { "coordinates": [ { "allele": "C", "end": 2531, "referenceAllele": "G", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000676293.1:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000502362.1:p.Trp740Ser", "hgvsWellDefined": "ENSP00000502362.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775995" }, { "coordinates": [ { "allele": "C", "end": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000676295.1:n.632G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS775996" }, { "coordinates": [ { "allele": "C", "end": 2362, "referenceAllele": "G", "start": 2361 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000676426.1:c.*1219G>C" ], "proteinEffect": { "hgvs": "ENSP00000502359.1:n.*1219G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776108" }, { "coordinates": [ { "allele": "C", "end": 2541, "referenceAllele": "G", "start": 2540 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000235329.9:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000235329.5:p.Trp740Ser", "hgvsWellDefined": "ENSP00000235329.5:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS248940" }, { "coordinates": [ { "allele": "C", "end": 2527, "referenceAllele": "G", "start": 2526 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000444836.5:c.2219G>C" ], "proteinEffect": { "hgvs": "ENSP00000416338.1:p.Trp740Ser", "hgvsWellDefined": "ENSP00000416338.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS298007" }, { "@id": "http://reg.genome.network/allele/PA103160", "coordinates": [ { "allele": "C", "end": 2527, "referenceAllele": "G", "start": 2526 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "NM_001127660.1:c.2219G>C" ], "proteinEffect": { "hgvs": "NP_001121132.1:p.Trp740Ser", "hgvsWellDefined": "NP_001121132.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011662" }, { "@id": "http://reg.genome.network/allele/PA252147", "coordinates": [ { "allele": "C", "end": 2672, "referenceAllele": "G", "start": 2671 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "NM_014874.3:c.2219G>C", "LRG_255t1:c.2219G>C" ], "proteinEffect": { "hgvs": "NP_055689.1:p.Trp740Ser", "hgvsWellDefined": "NP_055689.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS033545" }, { "coordinates": [ { "allele": "C", "end": 2685, "referenceAllele": "G", "start": 2684 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263543.2:c.2219G>C" ], "proteinEffect": { "hgvs": "XP_005263600.1:p.Trp740Ser", "hgvsWellDefined": "XP_005263600.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063850" }, { "coordinates": [ { "allele": "C", "end": 2535, "referenceAllele": "G", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263545.2:c.2219G>C" ], "proteinEffect": { "hgvs": "XP_005263602.1:p.Trp740Ser", "hgvsWellDefined": "XP_005263602.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063851" }, { "coordinates": [ { "allele": "C", "end": 2567, "referenceAllele": "G", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263547.2:c.2219G>C" ], "proteinEffect": { "hgvs": "XP_005263604.1:p.Trp740Ser", "hgvsWellDefined": "XP_005263604.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063852" }, { "coordinates": [ { "allele": "C", "end": 2702, "referenceAllele": "G", "start": 2701 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263548.2:c.2219G>C" ], "proteinEffect": { "hgvs": "XP_005263605.1:p.Trp740Ser", "hgvsWellDefined": "XP_005263605.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063853" }, { "coordinates": [ { "allele": "C", "end": 2685, "referenceAllele": "G", "start": 2684 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263543.3:c.2219G>C" ], "proteinEffect": { "hgvs": "XP_005263600.1:p.Trp740Ser", "hgvsWellDefined": "XP_005263600.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535697" }, { "coordinates": [ { "allele": "C", "end": 2535, "referenceAllele": "G", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263545.3:c.2219G>C" ], "proteinEffect": { "hgvs": "XP_005263602.1:p.Trp740Ser", "hgvsWellDefined": "XP_005263602.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535698" }, { "coordinates": [ { "allele": "C", "end": 2567, "referenceAllele": "G", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263547.3:c.2219G>C" ], "proteinEffect": { "hgvs": "XP_005263604.1:p.Trp740Ser", "hgvsWellDefined": "XP_005263604.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535699" }, { "coordinates": [ { "allele": "C", "end": 2702, "referenceAllele": "G", "start": 2701 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263548.3:c.2219G>C" ], "proteinEffect": { "hgvs": "XP_005263605.1:p.Trp740Ser", "hgvsWellDefined": "XP_005263605.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535700" }, { "coordinates": [ { "allele": "C", "end": 2780, "referenceAllele": "G", "start": 2779 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_024451299.1:c.2219G>C" ], "proteinEffect": { "hgvs": "XP_024307067.1:p.Trp740Ser", "hgvsWellDefined": "XP_024307067.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS584818" }, { "@id": "http://reg.genome.network/allele/PA252147", "coordinates": [ { "allele": "C", "end": 2409, "referenceAllele": "G", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "NM_014874.4:c.2219G>C" ], "proteinEffect": { "hgvs": "NP_055689.1:p.Trp740Ser", "hgvsWellDefined": "NP_055689.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS697371", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000235329.10:c.2219G>C" }, "RefSeq": { "hgvs": "NM_014874.4:c.2219G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000235329.5:p.Trp740Ser" }, "RefSeq": { "hgvs": "NP_055689.1:p.Trp740Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA103160", "coordinates": [ { "allele": "C", "end": 2264, "referenceAllele": "G", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "NM_001127660.2:c.2219G>C" ], "proteinEffect": { "hgvs": "NP_001121132.1:p.Trp740Ser", "hgvsWellDefined": "NP_001121132.1:p.Trp740Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712223" } ], "type": "nucleotide" }