Canonical Allele Identifier: CA349618597

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2575724
• ClinVar RCV Id: RCV003321290
• MyVariant Identifiers: chr2:g.179482917A>T (hg19) ; chr2:g.178618190A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618190A>T , CM000664.2:g.178618190A>T	GRCh38
NC_000002.11:g.179482917A>T , CM000664.1:g.179482917A>T	GRCh37
NC_000002.10:g.179191162A>T	NCBI36
NG_011618.3:g.217613T>A , LRG_391:g.217613T>A
NG_051363.1:g.100364A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39564T>A (TTN)	ENSP00000343764.6:p.Tyr13188Ter
ENST00000342175.11:c.20649T>A (TTN)	ENSP00000340554.6:p.Tyr6883Ter
ENST00000359218.10:c.20448T>A (TTN)	ENSP00000352154.5:p.Tyr6816Ter
ENST00000342175.10:c.20649T>A (TTN)	ENSP00000340554.6:p.Tyr6883Ter
ENST00000342992.10:c.39564T>A (TTN)	ENSP00000343764.6:p.Tyr13188Ter
ENST00000359218.9:c.20448T>A (TTN)	ENSP00000352154.5:p.Tyr6816Ter
ENST00000460472.6:c.20073T>A (TTN)	ENSP00000434586.1:p.Tyr6691Ter
ENST00000589042.5:c.47268T>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr15756Ter
ENST00000591111.5:c.42345T>A (TTN)	ENSP00000465570.1:p.Tyr14115Ter
ENST00000615779.4:c.42345T>A (TTN)	ENSP00000483597.1:p.Tyr14115Ter
NM_001256850.1:c.42345T>A (TTN)	NP_001243779.1:p.Tyr14115Ter
NM_001267550.2:c.47268T>A (TTN) MANE Select	NP_001254479.2:p.Tyr15756Ter
NM_003319.4:c.20073T>A (TTN)	NP_003310.4:p.Tyr6691Ter
NM_133378.4:c.39564T>A (TTN)	NP_596869.4:p.Tyr13188Ter
NM_133432.3:c.20448T>A (TTN)	NP_597676.3:p.Tyr6816Ter
NM_133437.4:c.20649T>A (TTN)	NP_597681.4:p.Tyr6883Ter
NR_038271.1:n.1605-1563A>T (TTN-AS1)
XM_011511729.1:c.46365T>A (TTN)	XP_011510031.1:p.Tyr15455Ter
XM_011511730.1:c.20259T>A (TTN)	XP_011510032.1:p.Tyr6753Ter
XM_011511731.1:c.20118T>A (TTN)	XP_011510033.1:p.Tyr6706Ter
XM_017004819.1:c.46161T>A (TTN)	XP_016860308.1:p.Tyr15387Ter
XM_017004820.1:c.41559T>A (TTN)	XP_016860309.1:p.Tyr13853Ter
XM_017004821.1:c.41556T>A (TTN)	XP_016860310.1:p.Tyr13852Ter
XM_017004822.1:c.38598T>A (TTN)	XP_016860311.1:p.Tyr12866Ter
XM_017004823.1:c.20214T>A (TTN)	XP_016860312.1:p.Tyr6738Ter
XM_024453094.1:c.41709T>A (TTN)	XP_024308862.1:p.Tyr13903Ter
XM_024453095.1:c.41706T>A (TTN)	XP_024308863.1:p.Tyr13902Ter
XM_024453096.1:c.41139T>A (TTN)	XP_024308864.1:p.Tyr13713Ter
XM_024453097.1:c.38481T>A (TTN)	XP_024308865.1:p.Tyr12827Ter
XM_024453098.1:c.38400T>A (TTN)	XP_024308866.1:p.Tyr12800Ter
XM_024453099.1:c.20163T>A (TTN)	XP_024308867.1:p.Tyr6721Ter
XM_024453100.1:c.10017T>A (TTN)	XP_024308868.1:p.Tyr3339Ter