{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA181741", "communityStandardTitle": [ "NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM2900075" }, { "active": false, "id": "COSM2900076" }, { "active": false, "id": "COSM2900077" }, { "active": false, "id": "COSM2900078" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172829[alleleid]", "alleleId": 172829, "preferredName": "NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178196", "RCV": [ "RCV000154926", "RCV000172272", "RCV000248442", "RCV000234385", "RCV000262197", "RCV000370118", "RCV000261085", "RCV000316255", "RCV000375502" ], "variationId": 178196 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-179442805-C-T", "id": "2-179442805-C-T", "variant": "2:179442805 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.179442805C>T?assembly=hg19", "id": "chr2:g.179442805C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.178578078C>T?assembly=hg38", "id": "chr2:g.178578078C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200797552", "rs": 200797552 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-179442805-C-T?dataset=gnomad_r2_1", "id": "2-179442805-C-T", "variant": "2:179442805 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-178578078-C-T?dataset=gnomad_r3", "id": "2-178578078-C-T", "variant": "2:178578078 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-178578078-C-T?dataset=gnomad_r4", "id": "2-178578078-C-T", "variant": "2:178578078 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 178578078, "referenceAllele": "C", "start": 178578077 } ], "hgvs": [ "NC_000002.12:g.178578078C>T", "CM000664.2:g.178578078C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 179442805, "referenceAllele": "C", "start": 179442804 } ], "hgvs": [ "NC_000002.11:g.179442805C>T", "CM000664.1:g.179442805C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 179151051, "referenceAllele": "C", "start": 179151050 } ], "hgvs": [ "NC_000002.10:g.179151051C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 257725, "referenceAllele": "G", "start": 257724 } ], "hgvs": [ "NG_011618.3:g.257725G>A", "LRG_391:g.257725G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001855" }, { "coordinates": [ { "allele": "T", "end": 60252, "referenceAllele": "C", "start": 60251 } ], "hgvs": [ "NG_051363.1:g.60252C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616968" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 60958, "referenceAllele": "G", "start": 60957 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342992.11:c.60733G>A" ], "proteinEffect": { "hgvs": "ENSP00000343764.6:p.Glu20245Lys", "hgvsWellDefined": "ENSP00000343764.6:p.Glu20245Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS824023" }, { "coordinates": [ { "allele": "A", "end": 41818, "referenceAllele": "G", "start": 41817 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342175.11:c.41818G>A" ], "proteinEffect": { "hgvs": "ENSP00000340554.6:p.Glu13940Lys", "hgvsWellDefined": "ENSP00000340554.6:p.Glu13940Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS748044" }, { "coordinates": [ { "allele": "A", "end": 41617, "referenceAllele": "G", "start": 41616 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000359218.10:c.41617G>A" ], "proteinEffect": { "hgvs": "ENSP00000352154.5:p.Glu13873Lys", "hgvsWellDefined": "ENSP00000352154.5:p.Glu13873Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS749164" }, { "coordinates": [ { "allele": "A", "end": 42043, "referenceAllele": "G", "start": 42042 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342175.10:c.41818G>A" ], "proteinEffect": { "hgvs": "ENSP00000340554.6:p.Glu13940Lys", "hgvsWellDefined": "ENSP00000340554.6:p.Glu13940Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS261494" }, { "coordinates": [ { "allele": "A", "end": 60956, "referenceAllele": "G", "start": 60955 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342992.10:c.60733G>A" ], "proteinEffect": { "hgvs": "ENSP00000343764.6:p.Glu20245Lys", "hgvsWellDefined": "ENSP00000343764.6:p.Glu20245Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS261671" }, { "coordinates": [ { "allele": "A", "end": 41842, "referenceAllele": "G", "start": 41841 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000359218.9:c.41617G>A" ], "proteinEffect": { "hgvs": "ENSP00000352154.5:p.Glu13873Lys", "hgvsWellDefined": "ENSP00000352154.5:p.Glu13873Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS264719" }, { "coordinates": [ { "allele": "A", "end": 41467, "referenceAllele": "G", "start": 41466 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000460472.6:c.41242G>A" ], "proteinEffect": { "hgvs": "ENSP00000434586.1:p.Glu13748Lys", "hgvsWellDefined": "ENSP00000434586.1:p.Glu13748Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS305197" }, { "coordinates": [ { "allele": "A", "end": 68662, "referenceAllele": "G", "start": 68661 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000589042.5:c.68437G>A" ], "proteinEffect": { "hgvs": "ENSP00000467141.1:p.Glu22813Lys", "hgvsWellDefined": "ENSP00000467141.1:p.Glu22813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS391210", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000589042.5:c.68437G>A" }, "RefSeq": { "hgvs": "NM_001267550.2:c.68437G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467141.1:p.Glu22813Lys" }, "RefSeq": { "hgvs": "NP_001254479.2:p.Glu22813Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 63739, "referenceAllele": "G", "start": 63738 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000591111.5:c.63514G>A" ], "proteinEffect": { "hgvs": "ENSP00000465570.1:p.Glu21172Lys", "hgvsWellDefined": "ENSP00000465570.1:p.Glu21172Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS392660" }, { "coordinates": [ { "allele": "A", "end": 63739, "referenceAllele": "G", "start": 63738 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000615779.4:c.63514G>A" ], "proteinEffect": { "hgvs": "ENSP00000483597.1:p.Glu21172Lys", "hgvsWellDefined": "ENSP00000483597.1:p.Glu21172Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS402761" }, { "@id": "http://reg.genome.network/allele/PA181743", "coordinates": [ { "allele": "A", "end": 63739, "referenceAllele": "G", "start": 63738 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_001256850.1:c.63514G>A" ], "proteinEffect": { "hgvs": "NP_001243779.1:p.Glu21172Lys", "hgvsWellDefined": "NP_001243779.1:p.Glu21172Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019481" }, { "@id": "http://reg.genome.network/allele/PA181744", "coordinates": [ { "allele": "A", "end": 68662, "referenceAllele": "G", "start": 68661 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_001267550.2:c.68437G>A" ], "proteinEffect": { "hgvs": "NP_001254479.2:p.Glu22813Lys", "hgvsWellDefined": "NP_001254479.2:p.Glu22813Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000589042.5:c.68437G>A" }, "RefSeq": { "hgvs": "NM_001267550.2:c.68437G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467141.1:p.Glu22813Lys" }, "RefSeq": { "hgvs": "NP_001254479.2:p.Glu22813Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2829437206", "coordinates": [ { "allele": "A", "end": 41467, "referenceAllele": "G", "start": 41466 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_003319.4:c.41242G>A" ], "proteinEffect": { "hgvs": "NP_003310.4:p.Glu13748Lys", "hgvsWellDefined": "NP_003310.4:p.Glu13748Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS028569" }, { "@id": "http://reg.genome.network/allele/PA181742", "coordinates": [ { "allele": "A", "end": 60958, "referenceAllele": "G", "start": 60957 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133378.4:c.60733G>A" ], "proteinEffect": { "hgvs": "NP_596869.4:p.Glu20245Lys", "hgvsWellDefined": "NP_596869.4:p.Glu20245Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040507" }, { "@id": "http://reg.genome.network/allele/PA2830218490", "coordinates": [ { "allele": "A", "end": 41842, "referenceAllele": "G", "start": 41841 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133432.3:c.41617G>A" ], "proteinEffect": { "hgvs": "NP_597676.3:p.Glu13873Lys", "hgvsWellDefined": "NP_597676.3:p.Glu13873Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040509" }, { "@id": "http://reg.genome.network/allele/PA2830234823", "coordinates": [ { "allele": "A", "end": 42043, "referenceAllele": "G", "start": 42042 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133437.4:c.41818G>A" ], "proteinEffect": { "hgvs": "NP_597681.4:p.Glu13940Lys", "hgvsWellDefined": "NP_597681.4:p.Glu13940Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040512" }, { "coordinates": [ { "allele": "T", "end": 596, "endIntronDirection": "+", "endIntronOffset": 6629, "referenceAllele": "C", "start": 596, "startIntronDirection": "+", "startIntronOffset": 6628 } ], "gene": "http://reg.genome.network/gene/GN044124", "geneNCBI_id": 100506866, "geneSymbol": "TTN-AS1", "hgvs": [ "NR_038271.1:n.596+6629C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050329" }, { "coordinates": [ { "allele": "T", "end": 2043, "endIntronDirection": "-", "endIntronOffset": 4493, "referenceAllele": "C", "start": 2043, "startIntronDirection": "-", "startIntronOffset": 4494 } ], "gene": "http://reg.genome.network/gene/GN044124", "geneNCBI_id": 100506866, "geneSymbol": "TTN-AS1", "hgvs": [ "NR_038272.1:n.2044-4494C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050330" }, { "coordinates": [ { "allele": "A", "end": 67930, "referenceAllele": "G", "start": 67929 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511729.1:c.67534G>A" ], "proteinEffect": { "hgvs": "XP_011510031.1:p.Glu22512Lys", "hgvsWellDefined": "XP_011510031.1:p.Glu22512Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078988" }, { "coordinates": [ { "allele": "A", "end": 41824, "referenceAllele": "G", "start": 41823 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511730.1:c.41428G>A" ], "proteinEffect": { "hgvs": "XP_011510032.1:p.Glu13810Lys", "hgvsWellDefined": "XP_011510032.1:p.Glu13810Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078989" }, { "coordinates": [ { "allele": "A", "end": 41683, "referenceAllele": "G", "start": 41682 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511731.1:c.41287G>A" ], "proteinEffect": { "hgvs": "XP_011510033.1:p.Glu13763Lys", "hgvsWellDefined": "XP_011510033.1:p.Glu13763Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078990" }, { "coordinates": [ { "allele": "A", "end": 67555, "referenceAllele": "G", "start": 67554 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004819.1:c.67330G>A" ], "proteinEffect": { "hgvs": "XP_016860308.1:p.Glu22444Lys", "hgvsWellDefined": "XP_016860308.1:p.Glu22444Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS560227" }, { "coordinates": [ { "allele": "A", "end": 62953, "referenceAllele": "G", "start": 62952 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004820.1:c.62728G>A" ], "proteinEffect": { "hgvs": "XP_016860309.1:p.Glu20910Lys", "hgvsWellDefined": "XP_016860309.1:p.Glu20910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS560228" }, { "coordinates": [ { "allele": "A", "end": 62950, "referenceAllele": "G", "start": 62949 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004821.1:c.62725G>A" ], "proteinEffect": { "hgvs": "XP_016860310.1:p.Glu20909Lys", "hgvsWellDefined": "XP_016860310.1:p.Glu20909Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS560229" }, { "coordinates": [ { "allele": "A", "end": 59992, "referenceAllele": "G", "start": 59991 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004822.1:c.59767G>A" ], "proteinEffect": { "hgvs": "XP_016860311.1:p.Glu19923Lys", "hgvsWellDefined": "XP_016860311.1:p.Glu19923Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS560230" }, { "coordinates": [ { "allele": "A", "end": 41608, "referenceAllele": "G", "start": 41607 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004823.1:c.41383G>A" ], "proteinEffect": { "hgvs": "XP_016860312.1:p.Glu13795Lys", "hgvsWellDefined": "XP_016860312.1:p.Glu13795Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS560231" }, { "coordinates": [ { "allele": "A", "end": 63103, "referenceAllele": "G", "start": 63102 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453094.1:c.62878G>A" ], "proteinEffect": { "hgvs": "XP_024308862.1:p.Glu20960Lys", "hgvsWellDefined": "XP_024308862.1:p.Glu20960Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586481" }, { "coordinates": [ { "allele": "A", "end": 63100, "referenceAllele": "G", "start": 63099 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453095.1:c.62875G>A" ], "proteinEffect": { "hgvs": "XP_024308863.1:p.Glu20959Lys", "hgvsWellDefined": "XP_024308863.1:p.Glu20959Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586482" }, { "coordinates": [ { "allele": "A", "end": 62533, "referenceAllele": "G", "start": 62532 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453096.1:c.62308G>A" ], "proteinEffect": { "hgvs": "XP_024308864.1:p.Glu20770Lys", "hgvsWellDefined": "XP_024308864.1:p.Glu20770Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586483" }, { "coordinates": [ { "allele": "A", "end": 59875, "referenceAllele": "G", "start": 59874 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453097.1:c.59650G>A" ], "proteinEffect": { "hgvs": "XP_024308865.1:p.Glu19884Lys", "hgvsWellDefined": "XP_024308865.1:p.Glu19884Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586484" }, { "coordinates": [ { "allele": "A", "end": 59794, "referenceAllele": "G", "start": 59793 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453098.1:c.59569G>A" ], "proteinEffect": { "hgvs": "XP_024308866.1:p.Glu19857Lys", "hgvsWellDefined": "XP_024308866.1:p.Glu19857Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586485" }, { "coordinates": [ { "allele": "A", "end": 41557, "referenceAllele": "G", "start": 41556 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453099.1:c.41332G>A" ], "proteinEffect": { "hgvs": "XP_024308867.1:p.Glu13778Lys", "hgvsWellDefined": "XP_024308867.1:p.Glu13778Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586486" }, { "coordinates": [ { "allele": "A", "end": 31212, "referenceAllele": "G", "start": 31211 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453100.1:c.31186G>A" ], "proteinEffect": { "hgvs": "XP_024308868.1:p.Glu10396Lys", "hgvsWellDefined": "XP_024308868.1:p.Glu10396Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS586487" } ], "type": "nucleotide" }