Canonical Allele Identifier: CA1985431

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 288119
• ClinVar RCV Id: RCV000287782 ; RCV001859673 ; RCV004017588 ; RCV003225939 ; RCV003298344
• dbSNP Id: rs747662439
• ExAC: 2:179396942 TC / T
• gnomAD v2: 2-179396942-TC-T
• gnomAD v3: 2-178532215-TC-T
• gnomAD v4: 2-178532215-TC-T
• MyVariant Identifiers: chr2:g.179396943del (hg19) ; chr2:g.178532216del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532216del , CM000664.2:g.178532216del	GRCh38
NC_000002.11:g.179396943del , CM000664.1:g.179396943del	GRCh37
NC_000002.10:g.179105189del	NCBI36
NG_011618.3:g.303587del , LRG_391:g.303587del
NG_051363.1:g.14390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96695del (TTN)	ENSP00000343764.6:p.Arg32232LysfsTer10
ENST00000342175.11:c.77780del (TTN)	ENSP00000340554.6:p.Arg25927LysfsTer10
ENST00000359218.10:c.77579del (TTN)	ENSP00000352154.5:p.Arg25860LysfsTer10
ENST00000342175.10:c.77780del (TTN)	ENSP00000340554.6:p.Arg25927LysfsTer10
ENST00000342992.10:c.96695del (TTN)	ENSP00000343764.6:p.Arg32232LysfsTer10
ENST00000359218.9:c.77579del (TTN)	ENSP00000352154.5:p.Arg25860LysfsTer10
ENST00000460472.6:c.77204del (TTN)	ENSP00000434586.1:p.Arg25735LysfsTer10
ENST00000589042.5:c.104399del (TTN) MANE Select	ENSP00000467141.1:p.Arg34800LysfsTer10
ENST00000591111.5:c.99476del (TTN)	ENSP00000465570.1:p.Arg33159LysfsTer10
ENST00000615779.4:c.99476del (TTN)	ENSP00000483597.1:p.Arg33159LysfsTer10
NM_001256850.1:c.99476del (TTN)	NP_001243779.1:p.Arg33159LysfsTer10
NM_001267550.2:c.104399del (TTN) MANE Select	NP_001254479.2:p.Arg34800LysfsTer10
NM_003319.4:c.77204del (TTN)	NP_003310.4:p.Arg25735LysfsTer10
NM_133378.4:c.96695del (TTN)	NP_596869.4:p.Arg32232LysfsTer10
NM_133432.3:c.77579del (TTN)	NP_597676.3:p.Arg25860LysfsTer10
NM_133437.4:c.77780del (TTN)	NP_597681.4:p.Arg25927LysfsTer10
NR_038271.1:n.446+8580del (TTN-AS1)
NR_038272.1:n.220-3516del (TTN-AS1)
XM_011511729.1:c.103496del (TTN)	XP_011510031.1:p.Arg34499LysfsTer10
XM_011511730.1:c.77390del (TTN)	XP_011510032.1:p.Arg25797LysfsTer10
XM_011511731.1:c.77249del (TTN)	XP_011510033.1:p.Arg25750LysfsTer10
XM_017004819.1:c.103292del (TTN)	XP_016860308.1:p.Arg34431LysfsTer10
XM_017004820.1:c.98690del (TTN)	XP_016860309.1:p.Arg32897LysfsTer10
XM_017004821.1:c.98687del (TTN)	XP_016860310.1:p.Arg32896LysfsTer10
XM_017004822.1:c.95729del (TTN)	XP_016860311.1:p.Arg31910LysfsTer10
XM_017004823.1:c.77345del (TTN)	XP_016860312.1:p.Arg25782LysfsTer10
XM_024453094.1:c.98840del (TTN)	XP_024308862.1:p.Arg32947LysfsTer10
XM_024453095.1:c.98837del (TTN)	XP_024308863.1:p.Arg32946LysfsTer10
XM_024453096.1:c.98270del (TTN)	XP_024308864.1:p.Arg32757LysfsTer10
XM_024453097.1:c.95612del (TTN)	XP_024308865.1:p.Arg31871LysfsTer10
XM_024453098.1:c.95531del (TTN)	XP_024308866.1:p.Arg31844LysfsTer10
XM_024453099.1:c.77294del (TTN)	XP_024308867.1:p.Arg25765LysfsTer10
XM_024453100.1:c.67148del (TTN)	XP_024308868.1:p.Arg22383LysfsTer10