Canonical Allele Identifier: CA349600711

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 518925
• ClinVar RCV Id: RCV000617296 ; RCV001860375
• dbSNP Id: rs1553699454
• MyVariant Identifiers: chr2:g.179477590C>A (hg19) ; chr2:g.178612863C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178612863C>A , CM000664.2:g.178612863C>A	GRCh38
NC_000002.11:g.179477590C>A , CM000664.1:g.179477590C>A	GRCh37
NC_000002.10:g.179185835C>A	NCBI36
NG_011618.3:g.222940G>T , LRG_391:g.222940G>T
NG_051363.1:g.95037C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.42154G>T (TTN)	ENSP00000343764.6:p.Glu14052Ter
ENST00000342175.11:c.23239G>T (TTN)	ENSP00000340554.6:p.Glu7747Ter
ENST00000359218.10:c.23038G>T (TTN)	ENSP00000352154.5:p.Glu7680Ter
ENST00000342175.10:c.23239G>T (TTN)	ENSP00000340554.6:p.Glu7747Ter
ENST00000342992.10:c.42154G>T (TTN)	ENSP00000343764.6:p.Glu14052Ter
ENST00000359218.9:c.23038G>T (TTN)	ENSP00000352154.5:p.Glu7680Ter
ENST00000460472.6:c.22663G>T (TTN)	ENSP00000434586.1:p.Glu7555Ter
ENST00000589042.5:c.49858G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu16620Ter
ENST00000591111.5:c.44935G>T (TTN)	ENSP00000465570.1:p.Glu14979Ter
ENST00000615779.4:c.44935G>T (TTN)	ENSP00000483597.1:p.Glu14979Ter
NM_001256850.1:c.44935G>T (TTN)	NP_001243779.1:p.Glu14979Ter
NM_001267550.2:c.49858G>T (TTN) MANE Select	NP_001254479.2:p.Glu16620Ter
NM_003319.4:c.22663G>T (TTN)	NP_003310.4:p.Glu7555Ter
NM_133378.4:c.42154G>T (TTN)	NP_596869.4:p.Glu14052Ter
NM_133432.3:c.23038G>T (TTN)	NP_597676.3:p.Glu7680Ter
NM_133437.4:c.23239G>T (TTN)	NP_597681.4:p.Glu7747Ter
NR_038271.1:n.783-1172C>A (TTN-AS1)
XM_011511729.1:c.48955G>T (TTN)	XP_011510031.1:p.Glu16319Ter
XM_011511730.1:c.22849G>T (TTN)	XP_011510032.1:p.Glu7617Ter
XM_011511731.1:c.22708G>T (TTN)	XP_011510033.1:p.Glu7570Ter
XM_017004819.1:c.48751G>T (TTN)	XP_016860308.1:p.Glu16251Ter
XM_017004820.1:c.44149G>T (TTN)	XP_016860309.1:p.Glu14717Ter
XM_017004821.1:c.44146G>T (TTN)	XP_016860310.1:p.Glu14716Ter
XM_017004822.1:c.41188G>T (TTN)	XP_016860311.1:p.Glu13730Ter
XM_017004823.1:c.22804G>T (TTN)	XP_016860312.1:p.Glu7602Ter
XM_024453094.1:c.44299G>T (TTN)	XP_024308862.1:p.Glu14767Ter
XM_024453095.1:c.44296G>T (TTN)	XP_024308863.1:p.Glu14766Ter
XM_024453096.1:c.43729G>T (TTN)	XP_024308864.1:p.Glu14577Ter
XM_024453097.1:c.41071G>T (TTN)	XP_024308865.1:p.Glu13691Ter
XM_024453098.1:c.40990G>T (TTN)	XP_024308866.1:p.Glu13664Ter
XM_024453099.1:c.22753G>T (TTN)	XP_024308867.1:p.Glu7585Ter
XM_024453100.1:c.12607G>T (TTN)	XP_024308868.1:p.Glu4203Ter