Canonical Allele Identifier: CA349485552

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535018
• ClinVar RCV Id: RCV000642774 ; RCV000768973 ; RCV002325257
• dbSNP Id: rs1553644307
• gnomAD v4: 2-178591418-T-A
• MyVariant Identifiers: chr2:g.179456145T>A (hg19) ; chr2:g.178591418T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591418T>A , CM000664.2:g.178591418T>A	GRCh38
NC_000002.11:g.179456145T>A , CM000664.1:g.179456145T>A	GRCh37
NC_000002.10:g.179164391T>A	NCBI36
NG_011618.3:g.244385A>T , LRG_391:g.244385A>T
NG_051363.1:g.73592T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52603A>T (TTN)	ENSP00000343764.6:p.Arg17535Ter
ENST00000342175.11:c.33688A>T (TTN)	ENSP00000340554.6:p.Arg11230Ter
ENST00000359218.10:c.33487A>T (TTN)	ENSP00000352154.5:p.Arg11163Ter
ENST00000342175.10:c.33688A>T (TTN)	ENSP00000340554.6:p.Arg11230Ter
ENST00000342992.10:c.52603A>T (TTN)	ENSP00000343764.6:p.Arg17535Ter
ENST00000359218.9:c.33487A>T (TTN)	ENSP00000352154.5:p.Arg11163Ter
ENST00000460472.6:c.33112A>T (TTN)	ENSP00000434586.1:p.Arg11038Ter
ENST00000589042.5:c.60307A>T (TTN) MANE Select	ENSP00000467141.1:p.Arg20103Ter
ENST00000591111.5:c.55384A>T (TTN)	ENSP00000465570.1:p.Arg18462Ter
ENST00000615779.4:c.55384A>T (TTN)	ENSP00000483597.1:p.Arg18462Ter
NM_001256850.1:c.55384A>T (TTN)	NP_001243779.1:p.Arg18462Ter
NM_001267550.2:c.60307A>T (TTN) MANE Select	NP_001254479.2:p.Arg20103Ter
NM_003319.4:c.33112A>T (TTN)	NP_003310.4:p.Arg11038Ter
NM_133378.4:c.52603A>T (TTN)	NP_596869.4:p.Arg17535Ter
NM_133432.3:c.33487A>T (TTN)	NP_597676.3:p.Arg11163Ter
NM_133437.4:c.33688A>T (TTN)	NP_597681.4:p.Arg11230Ter
NR_038271.1:n.597-6178T>A (TTN-AS1)
NR_038272.1:n.3364+104T>A (TTN-AS1)
XM_011511729.1:c.59404A>T (TTN)	XP_011510031.1:p.Arg19802Ter
XM_011511730.1:c.33298A>T (TTN)	XP_011510032.1:p.Arg11100Ter
XM_011511731.1:c.33157A>T (TTN)	XP_011510033.1:p.Arg11053Ter
XM_017004819.1:c.59200A>T (TTN)	XP_016860308.1:p.Arg19734Ter
XM_017004820.1:c.54598A>T (TTN)	XP_016860309.1:p.Arg18200Ter
XM_017004821.1:c.54595A>T (TTN)	XP_016860310.1:p.Arg18199Ter
XM_017004822.1:c.51637A>T (TTN)	XP_016860311.1:p.Arg17213Ter
XM_017004823.1:c.33253A>T (TTN)	XP_016860312.1:p.Arg11085Ter
XM_024453094.1:c.54748A>T (TTN)	XP_024308862.1:p.Arg18250Ter
XM_024453095.1:c.54745A>T (TTN)	XP_024308863.1:p.Arg18249Ter
XM_024453096.1:c.54178A>T (TTN)	XP_024308864.1:p.Arg18060Ter
XM_024453097.1:c.51520A>T (TTN)	XP_024308865.1:p.Arg17174Ter
XM_024453098.1:c.51439A>T (TTN)	XP_024308866.1:p.Arg17147Ter
XM_024453099.1:c.33202A>T (TTN)	XP_024308867.1:p.Arg11068Ter
XM_024453100.1:c.23056A>T (TTN)	XP_024308868.1:p.Arg7686Ter