{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349460023", "communityStandardTitle": [ "NM_001267550.2(TTN):c.4866C>A (p.Ser1622Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.179641725G>T?assembly=hg19", "id": "chr2:g.179641725G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.178776998G>T?assembly=hg38", "id": "chr2:g.178776998G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2092294772", "rs": 2092294772 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-178776998-G-T?dataset=gnomad_r4", "id": "2-178776998-G-T", "variant": "2:178776998 G / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 178776998, "referenceAllele": "G", "start": 178776997 } ], "hgvs": [ "NC_000002.12:g.178776998G>T", "CM000664.2:g.178776998G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 179641725, "referenceAllele": "G", "start": 179641724 } ], "hgvs": [ "NC_000002.11:g.179641725G>T", "CM000664.1:g.179641725G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 179349970, "referenceAllele": "G", "start": 179349969 } ], "hgvs": [ "NC_000002.10:g.179349970G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 58805, "referenceAllele": "C", "start": 58804 } ], "hgvs": [ "NG_011618.3:g.58805C>A", "LRG_391:g.58805C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001855" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342992.11:c.4866C>A" ], "proteinEffect": { "hgvs": "ENSP00000343764.6:p.Ser1622Arg", "hgvsWellDefined": "ENSP00000343764.6:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS824023" }, { "coordinates": [ { "allele": "A", "end": 4728, "referenceAllele": "C", "start": 4727 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342175.11:c.4728C>A" ], "proteinEffect": { "hgvs": "ENSP00000340554.6:p.Ser1576Arg", "hgvsWellDefined": "ENSP00000340554.6:p.Ser1576Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS748044" }, { "coordinates": [ { "allele": "A", "end": 4728, "referenceAllele": "C", "start": 4727 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000359218.10:c.4728C>A" ], "proteinEffect": { "hgvs": "ENSP00000352154.5:p.Ser1576Arg", "hgvsWellDefined": "ENSP00000352154.5:p.Ser1576Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS749164" }, { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000360870.10:c.4866C>A" ], "proteinEffect": { "hgvs": "ENSP00000354117.4:p.Ser1622Arg", "hgvsWellDefined": "ENSP00000354117.4:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS749373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360870.10:c.4866C>A" }, "RefSeq": { "hgvs": "NM_133379.5:c.4866C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354117.4:p.Ser1622Arg" }, "RefSeq": { "hgvs": "NP_596870.2:p.Ser1622Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 4953, "referenceAllele": "C", "start": 4952 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342175.10:c.4728C>A" ], "proteinEffect": { "hgvs": "ENSP00000340554.6:p.Ser1576Arg", "hgvsWellDefined": "ENSP00000340554.6:p.Ser1576Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS261494" }, { "coordinates": [ { "allele": "A", "end": 5089, "referenceAllele": "C", "start": 5088 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342992.10:c.4866C>A" ], "proteinEffect": { "hgvs": "ENSP00000343764.6:p.Ser1622Arg", "hgvsWellDefined": "ENSP00000343764.6:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS261671" }, { "coordinates": [ { "allele": "A", "end": 4953, "referenceAllele": "C", "start": 4952 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000359218.9:c.4728C>A" ], "proteinEffect": { "hgvs": "ENSP00000352154.5:p.Ser1576Arg", "hgvsWellDefined": "ENSP00000352154.5:p.Ser1576Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS264719" }, { "coordinates": [ { "allele": "A", "end": 5089, "referenceAllele": "C", "start": 5088 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000360870.9:c.4866C>A" ], "proteinEffect": { "hgvs": "ENSP00000354117.4:p.Ser1622Arg", "hgvsWellDefined": "ENSP00000354117.4:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS265276" }, { "coordinates": [ { "allele": "A", "end": 4953, "referenceAllele": "C", "start": 4952 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000460472.6:c.4728C>A" ], "proteinEffect": { "hgvs": "ENSP00000434586.1:p.Ser1576Arg", "hgvsWellDefined": "ENSP00000434586.1:p.Ser1576Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS305197" }, { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000589042.5:c.4866C>A" ], "proteinEffect": { "hgvs": "ENSP00000467141.1:p.Ser1622Arg", "hgvsWellDefined": "ENSP00000467141.1:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS391210", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000589042.5:c.4866C>A" }, "RefSeq": { "hgvs": "NM_001267550.2:c.4866C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467141.1:p.Ser1622Arg" }, "RefSeq": { "hgvs": "NP_001254479.2:p.Ser1622Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000591111.5:c.4866C>A" ], "proteinEffect": { "hgvs": "ENSP00000465570.1:p.Ser1622Arg", "hgvsWellDefined": "ENSP00000465570.1:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS392660" }, { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000615779.4:c.4866C>A" ], "proteinEffect": { "hgvs": "ENSP00000483597.1:p.Ser1622Arg", "hgvsWellDefined": "ENSP00000483597.1:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS402761" }, { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_001256850.1:c.4866C>A" ], "proteinEffect": { "hgvs": "NP_001243779.1:p.Ser1622Arg", "hgvsWellDefined": "NP_001243779.1:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS019481" }, { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_001267550.2:c.4866C>A" ], "proteinEffect": { "hgvs": "NP_001254479.2:p.Ser1622Arg", "hgvsWellDefined": "NP_001254479.2:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS020111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000589042.5:c.4866C>A" }, "RefSeq": { "hgvs": "NM_001267550.2:c.4866C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467141.1:p.Ser1622Arg" }, "RefSeq": { "hgvs": "NP_001254479.2:p.Ser1622Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 4953, "referenceAllele": "C", "start": 4952 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_003319.4:c.4728C>A" ], "proteinEffect": { "hgvs": "NP_003310.4:p.Ser1576Arg", "hgvsWellDefined": "NP_003310.4:p.Ser1576Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS028569" }, { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133378.4:c.4866C>A" ], "proteinEffect": { "hgvs": "NP_596869.4:p.Ser1622Arg", "hgvsWellDefined": "NP_596869.4:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS040507" }, { "@id": "http://reg.genome.network/allele/PA3067888759", "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133379.4:c.4866C>A", "LRG_391t2:c.4866C>A" ], "proteinEffect": { "hgvs": "NP_596870.2:p.Ser1622Arg", "hgvsWellDefined": "NP_596870.2:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS040508" }, { "coordinates": [ { "allele": "A", "end": 4953, "referenceAllele": "C", "start": 4952 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133432.3:c.4728C>A" ], "proteinEffect": { "hgvs": "NP_597676.3:p.Ser1576Arg", "hgvsWellDefined": "NP_597676.3:p.Ser1576Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS040509" }, { "coordinates": [ { "allele": "A", "end": 4953, "referenceAllele": "C", "start": 4952 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133437.4:c.4728C>A" ], "proteinEffect": { "hgvs": "NP_597681.4:p.Ser1576Arg", "hgvsWellDefined": "NP_597681.4:p.Ser1576Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS040512" }, { "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "G", "start": 72 } ], "hgvs": [ "NR_120594.1:n.73G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055471" }, { "coordinates": [ { "allele": "A", "end": 5310, "referenceAllele": "C", "start": 5309 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511729.1:c.4914C>A" ], "proteinEffect": { "hgvs": "XP_011510031.1:p.Ser1638Arg", "hgvsWellDefined": "XP_011510031.1:p.Ser1638Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078988" }, { "coordinates": [ { "allele": "A", "end": 5310, "referenceAllele": "C", "start": 5309 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511730.1:c.4914C>A" ], "proteinEffect": { "hgvs": "XP_011510032.1:p.Ser1638Arg", "hgvsWellDefined": "XP_011510032.1:p.Ser1638Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078989" }, { "coordinates": [ { "allele": "A", "end": 5169, "referenceAllele": "C", "start": 5168 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511731.1:c.4773C>A" ], "proteinEffect": { "hgvs": "XP_011510033.1:p.Ser1591Arg", "hgvsWellDefined": "XP_011510033.1:p.Ser1591Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078990" }, { "coordinates": [ { "allele": "A", "end": 5307, "referenceAllele": "C", "start": 5306 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511732.1:c.4911C>A" ], "proteinEffect": { "hgvs": "XP_011510034.1:p.Ser1637Arg", "hgvsWellDefined": "XP_011510034.1:p.Ser1637Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078991" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004819.1:c.4869C>A" ], "proteinEffect": { "hgvs": "XP_016860308.1:p.Ser1623Arg", "hgvsWellDefined": "XP_016860308.1:p.Ser1623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS560227" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004820.1:c.4869C>A" ], "proteinEffect": { "hgvs": "XP_016860309.1:p.Ser1623Arg", "hgvsWellDefined": "XP_016860309.1:p.Ser1623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS560228" }, { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004821.1:c.4866C>A" ], "proteinEffect": { "hgvs": "XP_016860310.1:p.Ser1622Arg", "hgvsWellDefined": "XP_016860310.1:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS560229" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004822.1:c.4869C>A" ], "proteinEffect": { "hgvs": "XP_016860311.1:p.Ser1623Arg", "hgvsWellDefined": "XP_016860311.1:p.Ser1623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS560230" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004823.1:c.4869C>A" ], "proteinEffect": { "hgvs": "XP_016860312.1:p.Ser1623Arg", "hgvsWellDefined": "XP_016860312.1:p.Ser1623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS560231" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453094.1:c.4869C>A" ], "proteinEffect": { "hgvs": "XP_024308862.1:p.Ser1623Arg", "hgvsWellDefined": "XP_024308862.1:p.Ser1623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586481" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453095.1:c.4869C>A" ], "proteinEffect": { "hgvs": "XP_024308863.1:p.Ser1623Arg", "hgvsWellDefined": "XP_024308863.1:p.Ser1623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586482" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453096.1:c.4869C>A" ], "proteinEffect": { "hgvs": "XP_024308864.1:p.Ser1623Arg", "hgvsWellDefined": "XP_024308864.1:p.Ser1623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586483" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453097.1:c.4869C>A" ], "proteinEffect": { "hgvs": "XP_024308865.1:p.Ser1623Arg", "hgvsWellDefined": "XP_024308865.1:p.Ser1623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586484" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453098.1:c.4869C>A" ], "proteinEffect": { "hgvs": "XP_024308866.1:p.Ser1623Arg", "hgvsWellDefined": "XP_024308866.1:p.Ser1623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586485" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "C", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453099.1:c.4869C>A" ], "proteinEffect": { "hgvs": "XP_024308867.1:p.Ser1623Arg", "hgvsWellDefined": "XP_024308867.1:p.Ser1623Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586486" }, { "@id": "http://reg.genome.network/allele/PA3067888759", "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "C", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133379.5:c.4866C>A" ], "proteinEffect": { "hgvs": "NP_596870.2:p.Ser1622Arg", "hgvsWellDefined": "NP_596870.2:p.Ser1622Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS699650", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360870.10:c.4866C>A" }, "RefSeq": { "hgvs": "NM_133379.5:c.4866C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354117.4:p.Ser1622Arg" }, "RefSeq": { "hgvs": "NP_596870.2:p.Ser1622Arg" } } } } ], "type": "nucleotide" }