Canonical Allele Identifier: CA16617369

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 423105
• ClinVar RCV Id: RCV000485574 ; RCV000642775
• dbSNP Id: rs1064796230
• MyVariant Identifiers: chr2:g.179466263_179466264del (hg19) ; chr2:g.178601536_178601537del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601537_178601538del , CM000664.2:g.178601537_178601538del	GRCh38
NC_000002.11:g.179466264_179466265del , CM000664.1:g.179466264_179466265del	GRCh37
NC_000002.10:g.179174509_179174510del	NCBI36
NG_011618.3:g.234266_234267del , LRG_391:g.234266_234267del
NG_051363.1:g.83711_83712del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47756_47757del (TTN)	ENSP00000343764.6:p.Lys15919SerfsTer3
ENST00000342175.11:c.28841_28842del (TTN)	ENSP00000340554.6:p.Lys9614SerfsTer3
ENST00000359218.10:c.28640_28641del (TTN)	ENSP00000352154.5:p.Lys9547SerfsTer3
ENST00000342175.10:c.28841_28842del (TTN)	ENSP00000340554.6:p.Lys9614SerfsTer3
ENST00000342992.10:c.47756_47757del (TTN)	ENSP00000343764.6:p.Lys15919SerfsTer3
ENST00000359218.9:c.28640_28641del (TTN)	ENSP00000352154.5:p.Lys9547SerfsTer3
ENST00000460472.6:c.28265_28266del (TTN)	ENSP00000434586.1:p.Lys9422SerfsTer3
ENST00000589042.5:c.55460_55461del (TTN) MANE Select	ENSP00000467141.1:p.Lys18487SerfsTer3
ENST00000591111.5:c.50537_50538del (TTN)	ENSP00000465570.1:p.Lys16846SerfsTer3
ENST00000615779.4:c.50537_50538del (TTN)	ENSP00000483597.1:p.Lys16846SerfsTer3
NM_001256850.1:c.50537_50538del (TTN)	NP_001243779.1:p.Lys16846SerfsTer3
NM_001267550.2:c.55460_55461del (TTN) MANE Select	NP_001254479.2:p.Lys18487SerfsTer3
NM_003319.4:c.28265_28266del (TTN)	NP_003310.4:p.Lys9422SerfsTer3
NM_133378.4:c.47756_47757del (TTN)	NP_596869.4:p.Lys15919SerfsTer3
NM_133432.3:c.28640_28641del (TTN)	NP_597676.3:p.Lys9547SerfsTer3
NM_133437.4:c.28841_28842del (TTN)	NP_597681.4:p.Lys9614SerfsTer3
NR_038271.1:n.682+3856_682+3857del (TTN-AS1)
NR_038272.1:n.3917+870_3917+871del (TTN-AS1)
XM_011511729.1:c.54557_54558del (TTN)	XP_011510031.1:p.Lys18186SerfsTer3
XM_011511730.1:c.28451_28452del (TTN)	XP_011510032.1:p.Lys9484SerfsTer3
XM_011511731.1:c.28310_28311del (TTN)	XP_011510033.1:p.Lys9437SerfsTer3
XM_017004819.1:c.54353_54354del (TTN)	XP_016860308.1:p.Lys18118SerfsTer3
XM_017004820.1:c.49751_49752del (TTN)	XP_016860309.1:p.Lys16584SerfsTer3
XM_017004821.1:c.49748_49749del (TTN)	XP_016860310.1:p.Lys16583SerfsTer3
XM_017004822.1:c.46790_46791del (TTN)	XP_016860311.1:p.Lys15597SerfsTer3
XM_017004823.1:c.28406_28407del (TTN)	XP_016860312.1:p.Lys9469SerfsTer3
XM_024453094.1:c.49901_49902del (TTN)	XP_024308862.1:p.Lys16634SerfsTer3
XM_024453095.1:c.49898_49899del (TTN)	XP_024308863.1:p.Lys16633SerfsTer3
XM_024453096.1:c.49331_49332del (TTN)	XP_024308864.1:p.Lys16444SerfsTer3
XM_024453097.1:c.46673_46674del (TTN)	XP_024308865.1:p.Lys15558SerfsTer3
XM_024453098.1:c.46592_46593del (TTN)	XP_024308866.1:p.Lys15531SerfsTer3
XM_024453099.1:c.28355_28356del (TTN)	XP_024308867.1:p.Lys9452SerfsTer3
XM_024453100.1:c.18209_18210del (TTN)	XP_024308868.1:p.Lys6070SerfsTer3