Canonical Allele Identifier: CA141517

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47618
• ClinVar RCV Id: RCV000040887 ; RCV001697105
• dbSNP Id: rs369081242
• ExAC: 2:179402266 C / T
• gnomAD v2: 2-179402266-C-T
• gnomAD v3: 2-178537539-C-T
• gnomAD v4: 2-178537539-C-T
• MyVariant Identifiers: chr2:g.179402266C>T (hg19) ; chr2:g.178537539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537539C>T , CM000664.2:g.178537539C>T	GRCh38
NC_000002.11:g.179402266C>T , CM000664.1:g.179402266C>T	GRCh37
NC_000002.10:g.179110512C>T	NCBI36
NG_011618.3:g.298264G>A , LRG_391:g.298264G>A
NG_051363.1:g.19713C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91964G>A (TTN)	ENSP00000343764.6:p.Arg30655His
ENST00000342175.11:c.73049G>A (TTN)	ENSP00000340554.6:p.Arg24350His
ENST00000359218.10:c.72848G>A (TTN)	ENSP00000352154.5:p.Arg24283His
ENST00000342175.10:c.73049G>A (TTN)	ENSP00000340554.6:p.Arg24350His
ENST00000342992.10:c.91964G>A (TTN)	ENSP00000343764.6:p.Arg30655His
ENST00000359218.9:c.72848G>A (TTN)	ENSP00000352154.5:p.Arg24283His
ENST00000460472.6:c.72473G>A (TTN)	ENSP00000434586.1:p.Arg24158His
ENST00000589042.5:c.99668G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg33223His
ENST00000591111.5:c.94745G>A (TTN)	ENSP00000465570.1:p.Arg31582His
ENST00000615779.4:c.94745G>A (TTN)	ENSP00000483597.1:p.Arg31582His
NM_001256850.1:c.94745G>A (TTN)	NP_001243779.1:p.Arg31582His
NM_001267550.2:c.99668G>A (TTN) MANE Select	NP_001254479.2:p.Arg33223His
NM_003319.4:c.72473G>A (TTN)	NP_003310.4:p.Arg24158His
NM_133378.4:c.91964G>A (TTN)	NP_596869.4:p.Arg30655His
NM_133432.3:c.72848G>A (TTN)	NP_597676.3:p.Arg24283His
NM_133437.4:c.73049G>A (TTN)	NP_597681.4:p.Arg24350His
NR_038271.1:n.446+13903C>T (TTN-AS1)
NR_038272.1:n.495C>T (TTN-AS1)
XM_011511729.1:c.98765G>A (TTN)	XP_011510031.1:p.Arg32922His
XM_011511730.1:c.72659G>A (TTN)	XP_011510032.1:p.Arg24220His
XM_011511731.1:c.72518G>A (TTN)	XP_011510033.1:p.Arg24173His
XM_017004819.1:c.98561G>A (TTN)	XP_016860308.1:p.Arg32854His
XM_017004820.1:c.93959G>A (TTN)	XP_016860309.1:p.Arg31320His
XM_017004821.1:c.93956G>A (TTN)	XP_016860310.1:p.Arg31319His
XM_017004822.1:c.90998G>A (TTN)	XP_016860311.1:p.Arg30333His
XM_017004823.1:c.72614G>A (TTN)	XP_016860312.1:p.Arg24205His
XM_024453094.1:c.94109G>A (TTN)	XP_024308862.1:p.Arg31370His
XM_024453095.1:c.94106G>A (TTN)	XP_024308863.1:p.Arg31369His
XM_024453096.1:c.93539G>A (TTN)	XP_024308864.1:p.Arg31180His
XM_024453097.1:c.90881G>A (TTN)	XP_024308865.1:p.Arg30294His
XM_024453098.1:c.90800G>A (TTN)	XP_024308866.1:p.Arg30267His
XM_024453099.1:c.72563G>A (TTN)	XP_024308867.1:p.Arg24188His
XM_024453100.1:c.62417G>A (TTN)	XP_024308868.1:p.Arg20806His