{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349608061", "communityStandardTitle": [ "NM_001267550.2(TTN):c.48769G>A (p.Glu16257Lys)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5889838", "active": true, "id": "COSM5889838" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5889839", "active": true, "id": "COSM5889839" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5889840", "active": true, "id": "COSM5889840" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5889841", "active": true, "id": "COSM5889841" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.179479472C>T?assembly=hg19", "id": "chr2:g.179479472C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.178614745C>T?assembly=hg38", "id": "chr2:g.178614745C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1446993839", "rs": 1446993839 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-179479472-C-T?dataset=gnomad_r2_1", "id": "2-179479472-C-T", "variant": "2:179479472 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-178614745-C-T?dataset=gnomad_r3", "id": "2-178614745-C-T", "variant": "2:178614745 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-178614745-C-T?dataset=gnomad_r4", "id": "2-178614745-C-T", "variant": "2:178614745 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 178614745, "referenceAllele": "C", "start": 178614744 } ], "hgvs": [ "NC_000002.12:g.178614745C>T", "CM000664.2:g.178614745C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 179479472, "referenceAllele": "C", "start": 179479471 } ], "hgvs": [ "NC_000002.11:g.179479472C>T", "CM000664.1:g.179479472C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 179187717, "referenceAllele": "C", "start": 179187716 } ], "hgvs": [ "NC_000002.10:g.179187717C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 221058, "referenceAllele": "G", "start": 221057 } ], "hgvs": [ "NG_011618.3:g.221058G>A", "LRG_391:g.221058G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001855" }, { "coordinates": [ { "allele": "T", "end": 96919, "referenceAllele": "C", "start": 96918 } ], "hgvs": [ "NG_051363.1:g.96919C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616968" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 41290, "referenceAllele": "G", "start": 41289 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342992.11:c.41065G>A" ], "proteinEffect": { "hgvs": "ENSP00000343764.6:p.Glu13689Lys", "hgvsWellDefined": "ENSP00000343764.6:p.Glu13689Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS824023" }, { "coordinates": [ { "allele": "A", "end": 22150, "referenceAllele": "G", "start": 22149 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342175.11:c.22150G>A" ], "proteinEffect": { "hgvs": "ENSP00000340554.6:p.Glu7384Lys", "hgvsWellDefined": "ENSP00000340554.6:p.Glu7384Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS748044" }, { "coordinates": [ { "allele": "A", "end": 21949, "referenceAllele": "G", "start": 21948 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000359218.10:c.21949G>A" ], "proteinEffect": { "hgvs": "ENSP00000352154.5:p.Glu7317Lys", "hgvsWellDefined": "ENSP00000352154.5:p.Glu7317Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS749164" }, { "coordinates": [ { "allele": "A", "end": 22375, "referenceAllele": "G", "start": 22374 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342175.10:c.22150G>A" ], "proteinEffect": { "hgvs": "ENSP00000340554.6:p.Glu7384Lys", "hgvsWellDefined": "ENSP00000340554.6:p.Glu7384Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS261494" }, { "coordinates": [ { "allele": "A", "end": 41288, "referenceAllele": "G", "start": 41287 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342992.10:c.41065G>A" ], "proteinEffect": { "hgvs": "ENSP00000343764.6:p.Glu13689Lys", "hgvsWellDefined": "ENSP00000343764.6:p.Glu13689Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS261671" }, { "coordinates": [ { "allele": "A", "end": 22174, "referenceAllele": "G", "start": 22173 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000359218.9:c.21949G>A" ], "proteinEffect": { "hgvs": "ENSP00000352154.5:p.Glu7317Lys", "hgvsWellDefined": "ENSP00000352154.5:p.Glu7317Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS264719" }, { "coordinates": [ { "allele": "A", "end": 21799, "referenceAllele": "G", "start": 21798 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000460472.6:c.21574G>A" ], "proteinEffect": { "hgvs": "ENSP00000434586.1:p.Glu7192Lys", "hgvsWellDefined": "ENSP00000434586.1:p.Glu7192Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS305197" }, { "coordinates": [ { "allele": "A", "end": 48994, "referenceAllele": "G", "start": 48993 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000589042.5:c.48769G>A" ], "proteinEffect": { "hgvs": "ENSP00000467141.1:p.Glu16257Lys", "hgvsWellDefined": "ENSP00000467141.1:p.Glu16257Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS391210", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000589042.5:c.48769G>A" }, "RefSeq": { "hgvs": "NM_001267550.2:c.48769G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467141.1:p.Glu16257Lys" }, "RefSeq": { "hgvs": "NP_001254479.2:p.Glu16257Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 44071, "referenceAllele": "G", "start": 44070 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000591111.5:c.43846G>A" ], "proteinEffect": { "hgvs": "ENSP00000465570.1:p.Glu14616Lys", "hgvsWellDefined": "ENSP00000465570.1:p.Glu14616Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS392660" }, { "coordinates": [ { "allele": "A", "end": 44071, "referenceAllele": "G", "start": 44070 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000615779.4:c.43846G>A" ], "proteinEffect": { "hgvs": "ENSP00000483597.1:p.Glu14616Lys", "hgvsWellDefined": "ENSP00000483597.1:p.Glu14616Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS402761" }, { "coordinates": [ { "allele": "A", "end": 44071, "referenceAllele": "G", "start": 44070 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_001256850.1:c.43846G>A" ], "proteinEffect": { "hgvs": "NP_001243779.1:p.Glu14616Lys", "hgvsWellDefined": "NP_001243779.1:p.Glu14616Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019481" }, { "coordinates": [ { "allele": "A", "end": 48994, "referenceAllele": "G", "start": 48993 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_001267550.2:c.48769G>A" ], "proteinEffect": { "hgvs": "NP_001254479.2:p.Glu16257Lys", "hgvsWellDefined": "NP_001254479.2:p.Glu16257Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000589042.5:c.48769G>A" }, "RefSeq": { "hgvs": "NM_001267550.2:c.48769G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467141.1:p.Glu16257Lys" }, "RefSeq": { "hgvs": "NP_001254479.2:p.Glu16257Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 21799, "referenceAllele": "G", "start": 21798 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_003319.4:c.21574G>A" ], "proteinEffect": { "hgvs": "NP_003310.4:p.Glu7192Lys", "hgvsWellDefined": "NP_003310.4:p.Glu7192Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS028569" }, { "@id": "http://reg.genome.network/allele/PA3067589510", "coordinates": [ { "allele": "A", "end": 41290, "referenceAllele": "G", "start": 41289 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133378.4:c.41065G>A" ], "proteinEffect": { "hgvs": "NP_596869.4:p.Glu13689Lys", "hgvsWellDefined": "NP_596869.4:p.Glu13689Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040507" }, { "coordinates": [ { "allele": "A", "end": 22174, "referenceAllele": "G", "start": 22173 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133432.3:c.21949G>A" ], "proteinEffect": { "hgvs": "NP_597676.3:p.Glu7317Lys", "hgvsWellDefined": "NP_597676.3:p.Glu7317Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040509" }, { "coordinates": [ { "allele": "A", "end": 22375, "referenceAllele": "G", "start": 22374 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133437.4:c.22150G>A" ], "proteinEffect": { "hgvs": "NP_597681.4:p.Glu7384Lys", "hgvsWellDefined": "NP_597681.4:p.Glu7384Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040512" }, { "coordinates": [ { "allele": "T", "end": 1493, "referenceAllele": "C", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN044124", "geneNCBI_id": 100506866, "geneSymbol": "TTN-AS1", "hgvs": [ "NR_038271.1:n.1493C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050329" }, { "coordinates": [ { "allele": "A", "end": 48262, "referenceAllele": "G", "start": 48261 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511729.1:c.47866G>A" ], "proteinEffect": { "hgvs": "XP_011510031.1:p.Glu15956Lys", "hgvsWellDefined": "XP_011510031.1:p.Glu15956Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078988" }, { "coordinates": [ { "allele": "A", "end": 22156, "referenceAllele": "G", "start": 22155 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511730.1:c.21760G>A" ], "proteinEffect": { "hgvs": "XP_011510032.1:p.Glu7254Lys", "hgvsWellDefined": "XP_011510032.1:p.Glu7254Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078989" }, { "coordinates": [ { "allele": "A", "end": 22015, "referenceAllele": "G", "start": 22014 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511731.1:c.21619G>A" ], "proteinEffect": { "hgvs": "XP_011510033.1:p.Glu7207Lys", "hgvsWellDefined": "XP_011510033.1:p.Glu7207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078990" }, { "coordinates": [ { "allele": "A", "end": 47887, "referenceAllele": "G", "start": 47886 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004819.1:c.47662G>A" ], "proteinEffect": { "hgvs": "XP_016860308.1:p.Glu15888Lys", "hgvsWellDefined": "XP_016860308.1:p.Glu15888Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS560227" }, { "coordinates": [ { "allele": "A", "end": 43285, "referenceAllele": "G", "start": 43284 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004820.1:c.43060G>A" ], "proteinEffect": { "hgvs": "XP_016860309.1:p.Glu14354Lys", "hgvsWellDefined": "XP_016860309.1:p.Glu14354Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS560228" }, { "coordinates": [ { "allele": "A", "end": 43282, "referenceAllele": "G", "start": 43281 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004821.1:c.43057G>A" ], "proteinEffect": { "hgvs": "XP_016860310.1:p.Glu14353Lys", "hgvsWellDefined": "XP_016860310.1:p.Glu14353Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS560229" }, { "coordinates": [ { "allele": "A", "end": 40324, "referenceAllele": "G", "start": 40323 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004822.1:c.40099G>A" ], "proteinEffect": { "hgvs": "XP_016860311.1:p.Glu13367Lys", "hgvsWellDefined": "XP_016860311.1:p.Glu13367Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS560230" }, { "coordinates": [ { "allele": "A", "end": 21940, "referenceAllele": "G", "start": 21939 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004823.1:c.21715G>A" ], "proteinEffect": { "hgvs": "XP_016860312.1:p.Glu7239Lys", "hgvsWellDefined": "XP_016860312.1:p.Glu7239Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS560231" }, { "coordinates": [ { "allele": "A", "end": 43435, "referenceAllele": "G", "start": 43434 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453094.1:c.43210G>A" ], "proteinEffect": { "hgvs": "XP_024308862.1:p.Glu14404Lys", "hgvsWellDefined": "XP_024308862.1:p.Glu14404Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586481" }, { "coordinates": [ { "allele": "A", "end": 43432, "referenceAllele": "G", "start": 43431 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453095.1:c.43207G>A" ], "proteinEffect": { "hgvs": "XP_024308863.1:p.Glu14403Lys", "hgvsWellDefined": "XP_024308863.1:p.Glu14403Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586482" }, { "coordinates": [ { "allele": "A", "end": 42865, "referenceAllele": "G", "start": 42864 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453096.1:c.42640G>A" ], "proteinEffect": { "hgvs": "XP_024308864.1:p.Glu14214Lys", "hgvsWellDefined": "XP_024308864.1:p.Glu14214Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586483" }, { "coordinates": [ { "allele": "A", "end": 40207, "referenceAllele": "G", "start": 40206 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453097.1:c.39982G>A" ], "proteinEffect": { "hgvs": "XP_024308865.1:p.Glu13328Lys", "hgvsWellDefined": "XP_024308865.1:p.Glu13328Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586484" }, { "coordinates": [ { "allele": "A", "end": 40126, "referenceAllele": "G", "start": 40125 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453098.1:c.39901G>A" ], "proteinEffect": { "hgvs": "XP_024308866.1:p.Glu13301Lys", "hgvsWellDefined": "XP_024308866.1:p.Glu13301Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586485" }, { "coordinates": [ { "allele": "A", "end": 21889, "referenceAllele": "G", "start": 21888 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453099.1:c.21664G>A" ], "proteinEffect": { "hgvs": "XP_024308867.1:p.Glu7222Lys", "hgvsWellDefined": "XP_024308867.1:p.Glu7222Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586486" }, { "coordinates": [ { "allele": "A", "end": 11544, "referenceAllele": "G", "start": 11543 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453100.1:c.11518G>A" ], "proteinEffect": { "hgvs": "XP_024308868.1:p.Glu3840Lys", "hgvsWellDefined": "XP_024308868.1:p.Glu3840Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586487" } ], "type": "nucleotide" }