Canonical Allele Identifier: CA349483672

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2050114744
• MyVariant Identifiers: chr2:g.179455859T>A (hg19) ; chr2:g.178591132T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591132T>A , CM000664.2:g.178591132T>A	GRCh38
NC_000002.11:g.179455859T>A , CM000664.1:g.179455859T>A	GRCh37
NC_000002.10:g.179164105T>A	NCBI36
NG_011618.3:g.244671A>T , LRG_391:g.244671A>T
NG_051363.1:g.73306T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52889A>T (TTN)	ENSP00000343764.6:p.Asp17630Val
ENST00000342175.11:c.33974A>T (TTN)	ENSP00000340554.6:p.Asp11325Val
ENST00000359218.10:c.33773A>T (TTN)	ENSP00000352154.5:p.Asp11258Val
ENST00000342175.10:c.33974A>T (TTN)	ENSP00000340554.6:p.Asp11325Val
ENST00000342992.10:c.52889A>T (TTN)	ENSP00000343764.6:p.Asp17630Val
ENST00000359218.9:c.33773A>T (TTN)	ENSP00000352154.5:p.Asp11258Val
ENST00000460472.6:c.33398A>T (TTN)	ENSP00000434586.1:p.Asp11133Val
ENST00000589042.5:c.60593A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp20198Val
ENST00000591111.5:c.55670A>T (TTN)	ENSP00000465570.1:p.Asp18557Val
ENST00000615779.4:c.55670A>T (TTN)	ENSP00000483597.1:p.Asp18557Val
NM_001256850.1:c.55670A>T (TTN)	NP_001243779.1:p.Asp18557Val
NM_001267550.2:c.60593A>T (TTN) MANE Select	NP_001254479.2:p.Asp20198Val
NM_003319.4:c.33398A>T (TTN)	NP_003310.4:p.Asp11133Val
NM_133378.4:c.52889A>T (TTN)	NP_596869.4:p.Asp17630Val
NM_133432.3:c.33773A>T (TTN)	NP_597676.3:p.Asp11258Val
NM_133437.4:c.33974A>T (TTN)	NP_597681.4:p.Asp11325Val
NR_038271.1:n.597-6464T>A (TTN-AS1)
NR_038272.1:n.3189-7T>A (TTN-AS1)
XM_011511729.1:c.59690A>T (TTN)	XP_011510031.1:p.Asp19897Val
XM_011511730.1:c.33584A>T (TTN)	XP_011510032.1:p.Asp11195Val
XM_011511731.1:c.33443A>T (TTN)	XP_011510033.1:p.Asp11148Val
XM_017004819.1:c.59486A>T (TTN)	XP_016860308.1:p.Asp19829Val
XM_017004820.1:c.54884A>T (TTN)	XP_016860309.1:p.Asp18295Val
XM_017004821.1:c.54881A>T (TTN)	XP_016860310.1:p.Asp18294Val
XM_017004822.1:c.51923A>T (TTN)	XP_016860311.1:p.Asp17308Val
XM_017004823.1:c.33539A>T (TTN)	XP_016860312.1:p.Asp11180Val
XM_024453094.1:c.55034A>T (TTN)	XP_024308862.1:p.Asp18345Val
XM_024453095.1:c.55031A>T (TTN)	XP_024308863.1:p.Asp18344Val
XM_024453096.1:c.54464A>T (TTN)	XP_024308864.1:p.Asp18155Val
XM_024453097.1:c.51806A>T (TTN)	XP_024308865.1:p.Asp17269Val
XM_024453098.1:c.51725A>T (TTN)	XP_024308866.1:p.Asp17242Val
XM_024453099.1:c.33488A>T (TTN)	XP_024308867.1:p.Asp11163Val
XM_024453100.1:c.23342A>T (TTN)	XP_024308868.1:p.Asp7781Val