Canonical Allele Identifier: CA349488139

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 426838
• ClinVar RCV Id: RCV000489435 ; RCV002446954 ; RCV002527035
• dbSNP Id: rs1085307825
• MyVariant Identifiers: chr2:g.179456569C>A (hg19) ; chr2:g.178591842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591842C>A , CM000664.2:g.178591842C>A	GRCh38
NC_000002.11:g.179456569C>A , CM000664.1:g.179456569C>A	GRCh37
NC_000002.10:g.179164815C>A	NCBI36
NG_011618.3:g.243961G>T , LRG_391:g.243961G>T
NG_051363.1:g.74016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52273G>T (TTN)	ENSP00000343764.6:p.Glu17425Ter
ENST00000342175.11:c.33358G>T (TTN)	ENSP00000340554.6:p.Glu11120Ter
ENST00000359218.10:c.33157G>T (TTN)	ENSP00000352154.5:p.Glu11053Ter
ENST00000342175.10:c.33358G>T (TTN)	ENSP00000340554.6:p.Glu11120Ter
ENST00000342992.10:c.52273G>T (TTN)	ENSP00000343764.6:p.Glu17425Ter
ENST00000359218.9:c.33157G>T (TTN)	ENSP00000352154.5:p.Glu11053Ter
ENST00000460472.6:c.32782G>T (TTN)	ENSP00000434586.1:p.Glu10928Ter
ENST00000589042.5:c.59977G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu19993Ter
ENST00000591111.5:c.55054G>T (TTN)	ENSP00000465570.1:p.Glu18352Ter
ENST00000615779.4:c.55054G>T (TTN)	ENSP00000483597.1:p.Glu18352Ter
NM_001256850.1:c.55054G>T (TTN)	NP_001243779.1:p.Glu18352Ter
NM_001267550.2:c.59977G>T (TTN) MANE Select	NP_001254479.2:p.Glu19993Ter
NM_003319.4:c.32782G>T (TTN)	NP_003310.4:p.Glu10928Ter
NM_133378.4:c.52273G>T (TTN)	NP_596869.4:p.Glu17425Ter
NM_133432.3:c.33157G>T (TTN)	NP_597676.3:p.Glu11053Ter
NM_133437.4:c.33358G>T (TTN)	NP_597681.4:p.Glu11120Ter
NR_038271.1:n.597-5754C>A (TTN-AS1)
NR_038272.1:n.3364+528C>A (TTN-AS1)
XM_011511729.1:c.59074G>T (TTN)	XP_011510031.1:p.Glu19692Ter
XM_011511730.1:c.32968G>T (TTN)	XP_011510032.1:p.Glu10990Ter
XM_011511731.1:c.32827G>T (TTN)	XP_011510033.1:p.Glu10943Ter
XM_017004819.1:c.58870G>T (TTN)	XP_016860308.1:p.Glu19624Ter
XM_017004820.1:c.54268G>T (TTN)	XP_016860309.1:p.Glu18090Ter
XM_017004821.1:c.54265G>T (TTN)	XP_016860310.1:p.Glu18089Ter
XM_017004822.1:c.51307G>T (TTN)	XP_016860311.1:p.Glu17103Ter
XM_017004823.1:c.32923G>T (TTN)	XP_016860312.1:p.Glu10975Ter
XM_024453094.1:c.54418G>T (TTN)	XP_024308862.1:p.Glu18140Ter
XM_024453095.1:c.54415G>T (TTN)	XP_024308863.1:p.Glu18139Ter
XM_024453096.1:c.53848G>T (TTN)	XP_024308864.1:p.Glu17950Ter
XM_024453097.1:c.51190G>T (TTN)	XP_024308865.1:p.Glu17064Ter
XM_024453098.1:c.51109G>T (TTN)	XP_024308866.1:p.Glu17037Ter
XM_024453099.1:c.32872G>T (TTN)	XP_024308867.1:p.Glu10958Ter
XM_024453100.1:c.22726G>T (TTN)	XP_024308868.1:p.Glu7576Ter