{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338460152", "communityStandardTitle": [ "NM_014874.4(MFN2):c.164C>G (p.Thr55Ser)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.12049389C>G?assembly=hg19", "id": "chr1:g.12049389C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.11989332C>G?assembly=hg38", "id": "chr1:g.11989332C>G" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 11989332, "referenceAllele": "C", "start": 11989331 } ], "hgvs": [ "NC_000001.11:g.11989332C>G", "CM000663.2:g.11989332C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 12049389, "referenceAllele": "C", "start": 12049388 } ], "hgvs": [ "NC_000001.10:g.12049389C>G", "CM000663.1:g.12049389C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 11971976, "referenceAllele": "C", "start": 11971975 } ], "hgvs": [ "NC_000001.9:g.11971976C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 14152, "referenceAllele": "C", "start": 14151 } ], "hgvs": [ "NG_007945.1:g.14152C>G", "LRG_255:g.14152C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000713" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000235329.10:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000235329.5:p.Thr55Ser", "hgvsWellDefined": "ENSP00000235329.5:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS740970", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000235329.10:c.164C>G" }, "RefSeq": { "hgvs": "NM_014874.4:c.164C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000235329.5:p.Thr55Ser" }, "RefSeq": { "hgvs": "NP_055689.1:p.Thr55Ser" } } } }, { "coordinates": [ { "allele": "G", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000412236.2:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000412023.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000412023.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS754492" }, { "coordinates": [ { "allele": "G", "end": 527, "referenceAllele": "C", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000674548.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502185.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000502185.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774500" }, { "coordinates": [ { "allele": "G", "end": 422, "endIntronDirection": "+", "endIntronOffset": 6742, "referenceAllele": "C", "start": 422, "startIntronDirection": "+", "startIntronOffset": 6741 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000674658.1:c.-35+6742C>G" ], "proteinEffect": { "hgvs": "ENSP00000502334.1:n.-35+6742C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS774594" }, { "coordinates": [ { "allele": "G", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000674706.1:n.603C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS774633" }, { "coordinates": [ { "allele": "G", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000674817.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502151.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000502151.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774724" }, { "coordinates": [ { "allele": "G", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000674910.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000501716.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000501716.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774799" }, { "coordinates": [ { "allele": "G", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675053.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000501646.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000501646.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774928" }, { "coordinates": [ { "allele": "G", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675113.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502623.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000502623.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774979" }, { "coordinates": [ { "allele": "G", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675194.1:n.589C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS775049" }, { "coordinates": [ { "allele": "G", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675231.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502404.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000502404.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775079" }, { "coordinates": [ { "allele": "G", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675298.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000501839.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000501839.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775135" }, { "coordinates": [ { "allele": "G", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675512.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502630.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000502630.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775322" }, { "coordinates": [ { "allele": "G", "end": 579, "referenceAllele": "C", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675530.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000501972.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000501972.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775336" }, { "coordinates": [ { "allele": "G", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675781.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000501947.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000501947.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775553" }, { "coordinates": [ { "allele": "G", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675817.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502422.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000502422.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775587" }, { "coordinates": [ { "allele": "G", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675872.1:n.415C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS775636" }, { "coordinates": [ { "allele": "G", "end": 444, "referenceAllele": "C", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675919.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000501776.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000501776.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775676" }, { "coordinates": [ { "allele": "G", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675959.1:n.561C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS775709" }, { "coordinates": [ { "allele": "G", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000675987.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502145.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000502145.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775732" }, { "coordinates": [ { "allele": "G", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000676293.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502362.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000502362.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775995" }, { "coordinates": [ { "allele": "G", "end": 651, "referenceAllele": "C", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000676369.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502005.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000502005.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS776059" }, { "coordinates": [ { "allele": "G", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000676426.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000502359.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000502359.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS776108" }, { "coordinates": [ { "allele": "G", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000235329.9:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000235329.5:p.Thr55Ser", "hgvsWellDefined": "ENSP00000235329.5:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS248940" }, { "coordinates": [ { "allele": "G", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000412236.1:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000412023.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000412023.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS282516" }, { "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000444836.5:c.164C>G" ], "proteinEffect": { "hgvs": "ENSP00000416338.1:p.Thr55Ser", "hgvsWellDefined": "ENSP00000416338.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS298007" }, { "coordinates": [ { "allele": "G", "end": 283, "referenceAllele": "C", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000484391.5:n.283C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS323654" }, { "coordinates": [ { "allele": "G", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "ENST00000497302.1:n.363C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS333564" }, { "@id": "http://reg.genome.network/allele/PA2825649000", "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "NM_001127660.1:c.164C>G" ], "proteinEffect": { "hgvs": "NP_001121132.1:p.Thr55Ser", "hgvsWellDefined": "NP_001121132.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011662" }, { "@id": "http://reg.genome.network/allele/PA658662785", "coordinates": [ { "allele": "G", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "NM_014874.3:c.164C>G", "LRG_255t1:c.164C>G" ], "proteinEffect": { "hgvs": "NP_055689.1:p.Thr55Ser", "hgvsWellDefined": "NP_055689.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS033545" }, { "coordinates": [ { "allele": "G", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263543.2:c.164C>G" ], "proteinEffect": { "hgvs": "XP_005263600.1:p.Thr55Ser", "hgvsWellDefined": "XP_005263600.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063850" }, { "coordinates": [ { "allele": "G", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263545.2:c.164C>G" ], "proteinEffect": { "hgvs": "XP_005263602.1:p.Thr55Ser", "hgvsWellDefined": "XP_005263602.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063851" }, { "coordinates": [ { "allele": "G", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263547.2:c.164C>G" ], "proteinEffect": { "hgvs": "XP_005263604.1:p.Thr55Ser", "hgvsWellDefined": "XP_005263604.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063852" }, { "coordinates": [ { "allele": "G", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263548.2:c.164C>G" ], "proteinEffect": { "hgvs": "XP_005263605.1:p.Thr55Ser", "hgvsWellDefined": "XP_005263605.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS063853" }, { "coordinates": [ { "allele": "G", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263543.3:c.164C>G" ], "proteinEffect": { "hgvs": "XP_005263600.1:p.Thr55Ser", "hgvsWellDefined": "XP_005263600.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535697" }, { "coordinates": [ { "allele": "G", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263545.3:c.164C>G" ], "proteinEffect": { "hgvs": "XP_005263602.1:p.Thr55Ser", "hgvsWellDefined": "XP_005263602.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535698" }, { "coordinates": [ { "allele": "G", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263547.3:c.164C>G" ], "proteinEffect": { "hgvs": "XP_005263604.1:p.Thr55Ser", "hgvsWellDefined": "XP_005263604.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535699" }, { "coordinates": [ { "allele": "G", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_005263548.3:c.164C>G" ], "proteinEffect": { "hgvs": "XP_005263605.1:p.Thr55Ser", "hgvsWellDefined": "XP_005263605.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535700" }, { "coordinates": [ { "allele": "G", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "XM_024451299.1:c.164C>G" ], "proteinEffect": { "hgvs": "XP_024307067.1:p.Thr55Ser", "hgvsWellDefined": "XP_024307067.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS584818" }, { "@id": "http://reg.genome.network/allele/PA658662785", "coordinates": [ { "allele": "G", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "NM_014874.4:c.164C>G" ], "proteinEffect": { "hgvs": "NP_055689.1:p.Thr55Ser", "hgvsWellDefined": "NP_055689.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS697371", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000235329.10:c.164C>G" }, "RefSeq": { "hgvs": "NM_014874.4:c.164C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000235329.5:p.Thr55Ser" }, "RefSeq": { "hgvs": "NP_055689.1:p.Thr55Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825649000", "coordinates": [ { "allele": "G", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN016877", "geneNCBI_id": 9927, "geneSymbol": "MFN2", "hgvs": [ "NM_001127660.2:c.164C>G" ], "proteinEffect": { "hgvs": "NP_001121132.1:p.Thr55Ser", "hgvsWellDefined": "NP_001121132.1:p.Thr55Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712223" } ], "type": "nucleotide" }