Canonical Allele Identifier: CA349436291

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466649
• ClinVar RCV Id: RCV000541256 ; RCV000788718
• dbSNP Id: rs1432889079
• gnomAD v4: 2-178584726-G-A
• MyVariant Identifiers: chr2:g.179449453G>A (hg19) ; chr2:g.178584726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584726G>A , CM000664.2:g.178584726G>A	GRCh38
NC_000002.11:g.179449453G>A , CM000664.1:g.179449453G>A	GRCh37
NC_000002.10:g.179157699G>A	NCBI36
NG_011618.3:g.251077C>T , LRG_391:g.251077C>T
NG_051363.1:g.66900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.57211C>T (TTN)	ENSP00000343764.6:p.Arg19071Ter
ENST00000342175.11:c.38296C>T (TTN)	ENSP00000340554.6:p.Arg12766Ter
ENST00000359218.10:c.38095C>T (TTN)	ENSP00000352154.5:p.Arg12699Ter
ENST00000342175.10:c.38296C>T (TTN)	ENSP00000340554.6:p.Arg12766Ter
ENST00000342992.10:c.57211C>T (TTN)	ENSP00000343764.6:p.Arg19071Ter
ENST00000359218.9:c.38095C>T (TTN)	ENSP00000352154.5:p.Arg12699Ter
ENST00000460472.6:c.37720C>T (TTN)	ENSP00000434586.1:p.Arg12574Ter
ENST00000589042.5:c.64915C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg21639Ter
ENST00000591111.5:c.59992C>T (TTN)	ENSP00000465570.1:p.Arg19998Ter
ENST00000615779.4:c.59992C>T (TTN)	ENSP00000483597.1:p.Arg19998Ter
NM_001256850.1:c.59992C>T (TTN)	NP_001243779.1:p.Arg19998Ter
NM_001267550.2:c.64915C>T (TTN) MANE Select	NP_001254479.2:p.Arg21639Ter
NM_003319.4:c.37720C>T (TTN)	NP_003310.4:p.Arg12574Ter
NM_133378.4:c.57211C>T (TTN)	NP_596869.4:p.Arg19071Ter
NM_133432.3:c.38095C>T (TTN)	NP_597676.3:p.Arg12699Ter
NM_133437.4:c.38296C>T (TTN)	NP_597681.4:p.Arg12766Ter
NR_038271.1:n.597-12870G>A (TTN-AS1)
NR_038272.1:n.2921G>A (TTN-AS1)
XM_011511729.1:c.64012C>T (TTN)	XP_011510031.1:p.Arg21338Ter
XM_011511730.1:c.37906C>T (TTN)	XP_011510032.1:p.Arg12636Ter
XM_011511731.1:c.37765C>T (TTN)	XP_011510033.1:p.Arg12589Ter
XM_017004819.1:c.63808C>T (TTN)	XP_016860308.1:p.Arg21270Ter
XM_017004820.1:c.59206C>T (TTN)	XP_016860309.1:p.Arg19736Ter
XM_017004821.1:c.59203C>T (TTN)	XP_016860310.1:p.Arg19735Ter
XM_017004822.1:c.56245C>T (TTN)	XP_016860311.1:p.Arg18749Ter
XM_017004823.1:c.37861C>T (TTN)	XP_016860312.1:p.Arg12621Ter
XM_024453094.1:c.59356C>T (TTN)	XP_024308862.1:p.Arg19786Ter
XM_024453095.1:c.59353C>T (TTN)	XP_024308863.1:p.Arg19785Ter
XM_024453096.1:c.58786C>T (TTN)	XP_024308864.1:p.Arg19596Ter
XM_024453097.1:c.56128C>T (TTN)	XP_024308865.1:p.Arg18710Ter
XM_024453098.1:c.56047C>T (TTN)	XP_024308866.1:p.Arg18683Ter
XM_024453099.1:c.37810C>T (TTN)	XP_024308867.1:p.Arg12604Ter
XM_024453100.1:c.27664C>T (TTN)	XP_024308868.1:p.Arg9222Ter