{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349607221", "communityStandardTitle": [ "NM_001267550.2(TTN):c.48971G>A (p.Ser16324Asn)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.179479270C>T?assembly=hg19", "id": "chr2:g.179479270C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.178614543C>T?assembly=hg38", "id": "chr2:g.178614543C>T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 178614543, "referenceAllele": "C", "start": 178614542 } ], "hgvs": [ "NC_000002.12:g.178614543C>T", "CM000664.2:g.178614543C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 179479270, "referenceAllele": "C", "start": 179479269 } ], "hgvs": [ "NC_000002.11:g.179479270C>T", "CM000664.1:g.179479270C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 179187515, "referenceAllele": "C", "start": 179187514 } ], "hgvs": [ "NC_000002.10:g.179187515C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 221260, "referenceAllele": "G", "start": 221259 } ], "hgvs": [ "NG_011618.3:g.221260G>A", "LRG_391:g.221260G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001855" }, { "coordinates": [ { "allele": "T", "end": 96717, "referenceAllele": "C", "start": 96716 } ], "hgvs": [ "NG_051363.1:g.96717C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616968" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 41492, "referenceAllele": "G", "start": 41491 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342992.11:c.41267G>A" ], "proteinEffect": { "hgvs": "ENSP00000343764.6:p.Ser13756Asn", "hgvsWellDefined": "ENSP00000343764.6:p.Ser13756Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS824023" }, { "coordinates": [ { "allele": "A", "end": 22352, "referenceAllele": "G", "start": 22351 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342175.11:c.22352G>A" ], "proteinEffect": { "hgvs": "ENSP00000340554.6:p.Ser7451Asn", "hgvsWellDefined": "ENSP00000340554.6:p.Ser7451Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS748044" }, { "coordinates": [ { "allele": "A", "end": 22151, "referenceAllele": "G", "start": 22150 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000359218.10:c.22151G>A" ], "proteinEffect": { "hgvs": "ENSP00000352154.5:p.Ser7384Asn", "hgvsWellDefined": "ENSP00000352154.5:p.Ser7384Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS749164" }, { "coordinates": [ { "allele": "A", "end": 22577, "referenceAllele": "G", "start": 22576 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342175.10:c.22352G>A" ], "proteinEffect": { "hgvs": "ENSP00000340554.6:p.Ser7451Asn", "hgvsWellDefined": "ENSP00000340554.6:p.Ser7451Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS261494" }, { "coordinates": [ { "allele": "A", "end": 41490, "referenceAllele": "G", "start": 41489 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342992.10:c.41267G>A" ], "proteinEffect": { "hgvs": "ENSP00000343764.6:p.Ser13756Asn", "hgvsWellDefined": "ENSP00000343764.6:p.Ser13756Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS261671" }, { "coordinates": [ { "allele": "A", "end": 22376, "referenceAllele": "G", "start": 22375 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000359218.9:c.22151G>A" ], "proteinEffect": { "hgvs": "ENSP00000352154.5:p.Ser7384Asn", "hgvsWellDefined": "ENSP00000352154.5:p.Ser7384Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS264719" }, { "coordinates": [ { "allele": "A", "end": 22001, "referenceAllele": "G", "start": 22000 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000460472.6:c.21776G>A" ], "proteinEffect": { "hgvs": "ENSP00000434586.1:p.Ser7259Asn", "hgvsWellDefined": "ENSP00000434586.1:p.Ser7259Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS305197" }, { "coordinates": [ { "allele": "A", "end": 49196, "referenceAllele": "G", "start": 49195 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000589042.5:c.48971G>A" ], "proteinEffect": { "hgvs": "ENSP00000467141.1:p.Ser16324Asn", "hgvsWellDefined": "ENSP00000467141.1:p.Ser16324Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS391210", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000589042.5:c.48971G>A" }, "RefSeq": { "hgvs": "NM_001267550.2:c.48971G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467141.1:p.Ser16324Asn" }, "RefSeq": { "hgvs": "NP_001254479.2:p.Ser16324Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 44273, "referenceAllele": "G", "start": 44272 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000591111.5:c.44048G>A" ], "proteinEffect": { "hgvs": "ENSP00000465570.1:p.Ser14683Asn", "hgvsWellDefined": "ENSP00000465570.1:p.Ser14683Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS392660" }, { "coordinates": [ { "allele": "A", "end": 44273, "referenceAllele": "G", "start": 44272 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000615779.4:c.44048G>A" ], "proteinEffect": { "hgvs": "ENSP00000483597.1:p.Ser14683Asn", "hgvsWellDefined": "ENSP00000483597.1:p.Ser14683Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS402761" }, { "coordinates": [ { "allele": "A", "end": 44273, "referenceAllele": "G", "start": 44272 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_001256850.1:c.44048G>A" ], "proteinEffect": { "hgvs": "NP_001243779.1:p.Ser14683Asn", "hgvsWellDefined": "NP_001243779.1:p.Ser14683Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS019481" }, { "coordinates": [ { "allele": "A", "end": 49196, "referenceAllele": "G", "start": 49195 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_001267550.2:c.48971G>A" ], "proteinEffect": { "hgvs": "NP_001254479.2:p.Ser16324Asn", "hgvsWellDefined": "NP_001254479.2:p.Ser16324Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS020111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000589042.5:c.48971G>A" }, "RefSeq": { "hgvs": "NM_001267550.2:c.48971G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467141.1:p.Ser16324Asn" }, "RefSeq": { "hgvs": "NP_001254479.2:p.Ser16324Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 22001, "referenceAllele": "G", "start": 22000 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_003319.4:c.21776G>A" ], "proteinEffect": { "hgvs": "NP_003310.4:p.Ser7259Asn", "hgvsWellDefined": "NP_003310.4:p.Ser7259Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS028569" }, { "coordinates": [ { "allele": "A", "end": 41492, "referenceAllele": "G", "start": 41491 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133378.4:c.41267G>A" ], "proteinEffect": { "hgvs": "NP_596869.4:p.Ser13756Asn", "hgvsWellDefined": "NP_596869.4:p.Ser13756Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS040507" }, { "coordinates": [ { "allele": "A", "end": 22376, "referenceAllele": "G", "start": 22375 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133432.3:c.22151G>A" ], "proteinEffect": { "hgvs": "NP_597676.3:p.Ser7384Asn", "hgvsWellDefined": "NP_597676.3:p.Ser7384Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS040509" }, { "coordinates": [ { "allele": "A", "end": 22577, "referenceAllele": "G", "start": 22576 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_133437.4:c.22352G>A" ], "proteinEffect": { "hgvs": "NP_597681.4:p.Ser7451Asn", "hgvsWellDefined": "NP_597681.4:p.Ser7451Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS040512" }, { "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN044124", "geneNCBI_id": 100506866, "geneSymbol": "TTN-AS1", "hgvs": [ "NR_038271.1:n.1291C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050329" }, { "coordinates": [ { "allele": "A", "end": 48464, "referenceAllele": "G", "start": 48463 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511729.1:c.48068G>A" ], "proteinEffect": { "hgvs": "XP_011510031.1:p.Ser16023Asn", "hgvsWellDefined": "XP_011510031.1:p.Ser16023Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS078988" }, { "coordinates": [ { "allele": "A", "end": 22358, "referenceAllele": "G", "start": 22357 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511730.1:c.21962G>A" ], "proteinEffect": { "hgvs": "XP_011510032.1:p.Ser7321Asn", "hgvsWellDefined": "XP_011510032.1:p.Ser7321Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS078989" }, { "coordinates": [ { "allele": "A", "end": 22217, "referenceAllele": "G", "start": 22216 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_011511731.1:c.21821G>A" ], "proteinEffect": { "hgvs": "XP_011510033.1:p.Ser7274Asn", "hgvsWellDefined": "XP_011510033.1:p.Ser7274Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS078990" }, { "coordinates": [ { "allele": "A", "end": 48089, "referenceAllele": "G", "start": 48088 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004819.1:c.47864G>A" ], "proteinEffect": { "hgvs": "XP_016860308.1:p.Ser15955Asn", "hgvsWellDefined": "XP_016860308.1:p.Ser15955Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS560227" }, { "coordinates": [ { "allele": "A", "end": 43487, "referenceAllele": "G", "start": 43486 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004820.1:c.43262G>A" ], "proteinEffect": { "hgvs": "XP_016860309.1:p.Ser14421Asn", "hgvsWellDefined": "XP_016860309.1:p.Ser14421Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS560228" }, { "coordinates": [ { "allele": "A", "end": 43484, "referenceAllele": "G", "start": 43483 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004821.1:c.43259G>A" ], "proteinEffect": { "hgvs": "XP_016860310.1:p.Ser14420Asn", "hgvsWellDefined": "XP_016860310.1:p.Ser14420Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS560229" }, { "coordinates": [ { "allele": "A", "end": 40526, "referenceAllele": "G", "start": 40525 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004822.1:c.40301G>A" ], "proteinEffect": { "hgvs": "XP_016860311.1:p.Ser13434Asn", "hgvsWellDefined": "XP_016860311.1:p.Ser13434Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS560230" }, { "coordinates": [ { "allele": "A", "end": 22142, "referenceAllele": "G", "start": 22141 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_017004823.1:c.21917G>A" ], "proteinEffect": { "hgvs": "XP_016860312.1:p.Ser7306Asn", "hgvsWellDefined": "XP_016860312.1:p.Ser7306Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS560231" }, { "coordinates": [ { "allele": "A", "end": 43637, "referenceAllele": "G", "start": 43636 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453094.1:c.43412G>A" ], "proteinEffect": { "hgvs": "XP_024308862.1:p.Ser14471Asn", "hgvsWellDefined": "XP_024308862.1:p.Ser14471Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS586481" }, { "coordinates": [ { "allele": "A", "end": 43634, "referenceAllele": "G", "start": 43633 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453095.1:c.43409G>A" ], "proteinEffect": { "hgvs": "XP_024308863.1:p.Ser14470Asn", "hgvsWellDefined": "XP_024308863.1:p.Ser14470Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS586482" }, { "coordinates": [ { "allele": "A", "end": 43067, "referenceAllele": "G", "start": 43066 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453096.1:c.42842G>A" ], "proteinEffect": { "hgvs": "XP_024308864.1:p.Ser14281Asn", "hgvsWellDefined": "XP_024308864.1:p.Ser14281Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS586483" }, { "coordinates": [ { "allele": "A", "end": 40409, "referenceAllele": "G", "start": 40408 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453097.1:c.40184G>A" ], "proteinEffect": { "hgvs": "XP_024308865.1:p.Ser13395Asn", "hgvsWellDefined": "XP_024308865.1:p.Ser13395Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS586484" }, { "coordinates": [ { "allele": "A", "end": 40328, "referenceAllele": "G", "start": 40327 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453098.1:c.40103G>A" ], "proteinEffect": { "hgvs": "XP_024308866.1:p.Ser13368Asn", "hgvsWellDefined": "XP_024308866.1:p.Ser13368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS586485" }, { "coordinates": [ { "allele": "A", "end": 22091, "referenceAllele": "G", "start": 22090 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453099.1:c.21866G>A" ], "proteinEffect": { "hgvs": "XP_024308867.1:p.Ser7289Asn", "hgvsWellDefined": "XP_024308867.1:p.Ser7289Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS586486" }, { "coordinates": [ { "allele": "A", "end": 11746, "referenceAllele": "G", "start": 11745 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453100.1:c.11720G>A" ], "proteinEffect": { "hgvs": "XP_024308868.1:p.Ser3907Asn", "hgvsWellDefined": "XP_024308868.1:p.Ser3907Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS586487" } ], "type": "nucleotide" }