Canonical Allele Identifier: CA10587492

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 264060
• ClinVar RCV Id: RCV000245184 ; RCV000704831 ; RCV000734246
• dbSNP Id: rs886039027
• gnomAD v2: 2-179457379-CAG-C
• gnomAD v4: 2-178592652-CAG-C
• MyVariant Identifiers: chr2:g.179457380_179457381del (hg19) ; chr2:g.178592653_178592654del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592653_178592654del , CM000664.2:g.178592653_178592654del	GRCh38
NC_000002.11:g.179457380_179457381del , CM000664.1:g.179457380_179457381del	GRCh37
NC_000002.10:g.179165626_179165627del	NCBI36
NG_011618.3:g.243149_243150del , LRG_391:g.243149_243150del
NG_051363.1:g.74827_74828del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.51647_51648del (TTN)	ENSP00000343764.6:p.Pro17216ArgfsTer5
ENST00000342175.11:c.32732_32733del (TTN)	ENSP00000340554.6:p.Pro10911ArgfsTer5
ENST00000359218.10:c.32531_32532del (TTN)	ENSP00000352154.5:p.Pro10844ArgfsTer5
ENST00000342175.10:c.32732_32733del (TTN)	ENSP00000340554.6:p.Pro10911ArgfsTer5
ENST00000342992.10:c.51647_51648del (TTN)	ENSP00000343764.6:p.Pro17216ArgfsTer5
ENST00000359218.9:c.32531_32532del (TTN)	ENSP00000352154.5:p.Pro10844ArgfsTer5
ENST00000460472.6:c.32156_32157del (TTN)	ENSP00000434586.1:p.Pro10719ArgfsTer5
ENST00000589042.5:c.59351_59352del (TTN) MANE Select	ENSP00000467141.1:p.Pro19784ArgfsTer5
ENST00000591111.5:c.54428_54429del (TTN)	ENSP00000465570.1:p.Pro18143ArgfsTer5
ENST00000615779.4:c.54428_54429del (TTN)	ENSP00000483597.1:p.Pro18143ArgfsTer5
NM_001256850.1:c.54428_54429del (TTN)	NP_001243779.1:p.Pro18143ArgfsTer5
NM_001267550.2:c.59351_59352del (TTN) MANE Select	NP_001254479.2:p.Pro19784ArgfsTer5
NM_003319.4:c.32156_32157del (TTN)	NP_003310.4:p.Pro10719ArgfsTer5
NM_133378.4:c.51647_51648del (TTN)	NP_596869.4:p.Pro17216ArgfsTer5
NM_133432.3:c.32531_32532del (TTN)	NP_597676.3:p.Pro10844ArgfsTer5
NM_133437.4:c.32732_32733del (TTN)	NP_597681.4:p.Pro10911ArgfsTer5
NR_038271.1:n.597-4943_597-4942del (TTN-AS1)
NR_038272.1:n.3364+1339_3364+1340del (TTN-AS1)
XM_011511729.1:c.58448_58449del (TTN)	XP_011510031.1:p.Pro19483ArgfsTer5
XM_011511730.1:c.32342_32343del (TTN)	XP_011510032.1:p.Pro10781ArgfsTer5
XM_011511731.1:c.32201_32202del (TTN)	XP_011510033.1:p.Pro10734ArgfsTer5
XM_017004819.1:c.58244_58245del (TTN)	XP_016860308.1:p.Pro19415ArgfsTer5
XM_017004820.1:c.53642_53643del (TTN)	XP_016860309.1:p.Pro17881ArgfsTer5
XM_017004821.1:c.53639_53640del (TTN)	XP_016860310.1:p.Pro17880ArgfsTer5
XM_017004822.1:c.50681_50682del (TTN)	XP_016860311.1:p.Pro16894ArgfsTer5
XM_017004823.1:c.32297_32298del (TTN)	XP_016860312.1:p.Pro10766ArgfsTer5
XM_024453094.1:c.53792_53793del (TTN)	XP_024308862.1:p.Pro17931ArgfsTer5
XM_024453095.1:c.53789_53790del (TTN)	XP_024308863.1:p.Pro17930ArgfsTer5
XM_024453096.1:c.53222_53223del (TTN)	XP_024308864.1:p.Pro17741ArgfsTer5
XM_024453097.1:c.50564_50565del (TTN)	XP_024308865.1:p.Pro16855ArgfsTer5
XM_024453098.1:c.50483_50484del (TTN)	XP_024308866.1:p.Pro16828ArgfsTer5
XM_024453099.1:c.32246_32247del (TTN)	XP_024308867.1:p.Pro10749ArgfsTer5
XM_024453100.1:c.22100_22101del (TTN)	XP_024308868.1:p.Pro7367ArgfsTer5