Canonical Allele Identifier: CA1996323

Gene: TTN

Linked Data

• ClinVar Variation Id: 995339
• ClinVar RCV Id: RCV001289376 ; RCV003336372
• dbSNP Id: rs747793660
• ExAC: 2:179501446 CAGG / C
• gnomAD v2: 2-179501446-CAGG-C
• gnomAD v3: 2-178636719-CAGG-C
• gnomAD v4: 2-178636719-CAGG-C
• MyVariant Identifiers: chr2:g.179501447_179501449del (hg19) ; chr2:g.178636720_178636722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636723_178636725del , CM000664.2:g.178636723_178636725del	GRCh38
NC_000002.11:g.179501450_179501452del , CM000664.1:g.179501450_179501452del	GRCh37
NC_000002.10:g.179209695_179209697del	NCBI36
NG_011618.3:g.199081_199083del , LRG_391:g.199081_199083del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33301_33303del	ENSP00000343764.6:p.Pro11101del
ENST00000342175.11:c.14386_14388del	ENSP00000340554.6:p.Pro4796del
ENST00000359218.10:c.14185_14187del	ENSP00000352154.5:p.Pro4729del
ENST00000342175.10:c.14386_14388del	ENSP00000340554.6:p.Pro4796del
ENST00000342992.10:c.33301_33303del	ENSP00000343764.6:p.Pro11101del
ENST00000359218.9:c.14185_14187del	ENSP00000352154.5:p.Pro4729del
ENST00000460472.6:c.13810_13812del	ENSP00000434586.1:p.Pro4604del
ENST00000589042.5:c.41005_41007del MANE Select	ENSP00000467141.1:p.Pro13669del
ENST00000591111.5:c.36082_36084del	ENSP00000465570.1:p.Pro12028del
ENST00000615779.4:c.36082_36084del	ENSP00000483597.1:p.Pro12028del
NM_001256850.1:c.36082_36084del	NP_001243779.1:p.Pro12028del
NM_001267550.2:c.41005_41007del MANE Select	NP_001254479.2:p.Pro13669del
NM_003319.4:c.13810_13812del	NP_003310.4:p.Pro4604del
NM_133378.4:c.33301_33303del	NP_596869.4:p.Pro11101del
NM_133432.3:c.14185_14187del	NP_597676.3:p.Pro4729del
NM_133437.4:c.14386_14388del	NP_597681.4:p.Pro4796del
XM_011511729.1:c.40102_40104del	XP_011510031.1:p.Pro13368del
XM_011511730.1:c.13996_13998del	XP_011510032.1:p.Pro4666del
XM_011511731.1:c.13855_13857del	XP_011510033.1:p.Pro4619del
XM_017004819.1:c.39898_39900del	XP_016860308.1:p.Pro13300del
XM_017004820.1:c.35296_35298del	XP_016860309.1:p.Pro11766del
XM_017004821.1:c.35293_35295del	XP_016860310.1:p.Pro11765del
XM_017004822.1:c.32335_32337del	XP_016860311.1:p.Pro10779del
XM_017004823.1:c.13951_13953del	XP_016860312.1:p.Pro4651del
XM_024453094.1:c.35446_35448del	XP_024308862.1:p.Pro11816del
XM_024453095.1:c.35443_35445del	XP_024308863.1:p.Pro11815del
XM_024453096.1:c.34876_34878del	XP_024308864.1:p.Pro11626del
XM_024453097.1:c.32218_32220del	XP_024308865.1:p.Pro10740del
XM_024453098.1:c.32137_32139del	XP_024308866.1:p.Pro10713del
XM_024453099.1:c.13900_13902del	XP_024308867.1:p.Pro4634del
XM_024453100.1:c.3754_3756del	XP_024308868.1:p.Pro1252del