Canonical Allele Identifier: CA309315

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202406
• ClinVar RCV Id: RCV000184262 ; RCV002336473 ; RCV001377801
• dbSNP Id: rs794729286
• gnomAD v4: 2-178570882-G-A
• MyVariant Identifiers: chr2:g.179435609G>A (hg19) ; chr2:g.178570882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570882G>A , CM000664.2:g.178570882G>A	GRCh38
NC_000002.11:g.179435609G>A , CM000664.1:g.179435609G>A	GRCh37
NC_000002.10:g.179143855G>A	NCBI36
NG_011618.3:g.264921C>T , LRG_391:g.264921C>T
NG_051363.1:g.53056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67546C>T (TTN)	ENSP00000343764.6:p.Arg22516Ter
ENST00000342175.11:c.48631C>T (TTN)	ENSP00000340554.6:p.Arg16211Ter
ENST00000359218.10:c.48430C>T (TTN)	ENSP00000352154.5:p.Arg16144Ter
ENST00000342175.10:c.48631C>T (TTN)	ENSP00000340554.6:p.Arg16211Ter
ENST00000342992.10:c.67546C>T (TTN)	ENSP00000343764.6:p.Arg22516Ter
ENST00000359218.9:c.48430C>T (TTN)	ENSP00000352154.5:p.Arg16144Ter
ENST00000460472.6:c.48055C>T (TTN)	ENSP00000434586.1:p.Arg16019Ter
ENST00000589042.5:c.75250C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg25084Ter
ENST00000591111.5:c.70327C>T (TTN)	ENSP00000465570.1:p.Arg23443Ter
ENST00000615779.4:c.70327C>T (TTN)	ENSP00000483597.1:p.Arg23443Ter
NM_001256850.1:c.70327C>T (TTN)	NP_001243779.1:p.Arg23443Ter
NM_001267550.2:c.75250C>T (TTN) MANE Select	NP_001254479.2:p.Arg25084Ter
NM_003319.4:c.48055C>T (TTN)	NP_003310.4:p.Arg16019Ter
NM_133378.4:c.67546C>T (TTN)	NP_596869.4:p.Arg22516Ter
NM_133432.3:c.48430C>T (TTN)	NP_597676.3:p.Arg16144Ter
NM_133437.4:c.48631C>T (TTN)	NP_597681.4:p.Arg16211Ter
NR_038271.1:n.447-418G>A (TTN-AS1)
NR_038272.1:n.2044-11690G>A (TTN-AS1)
XM_011511729.1:c.74347C>T (TTN)	XP_011510031.1:p.Arg24783Ter
XM_011511730.1:c.48241C>T (TTN)	XP_011510032.1:p.Arg16081Ter
XM_011511731.1:c.48100C>T (TTN)	XP_011510033.1:p.Arg16034Ter
XM_017004819.1:c.74143C>T (TTN)	XP_016860308.1:p.Arg24715Ter
XM_017004820.1:c.69541C>T (TTN)	XP_016860309.1:p.Arg23181Ter
XM_017004821.1:c.69538C>T (TTN)	XP_016860310.1:p.Arg23180Ter
XM_017004822.1:c.66580C>T (TTN)	XP_016860311.1:p.Arg22194Ter
XM_017004823.1:c.48196C>T (TTN)	XP_016860312.1:p.Arg16066Ter
XM_024453094.1:c.69691C>T (TTN)	XP_024308862.1:p.Arg23231Ter
XM_024453095.1:c.69688C>T (TTN)	XP_024308863.1:p.Arg23230Ter
XM_024453096.1:c.69121C>T (TTN)	XP_024308864.1:p.Arg23041Ter
XM_024453097.1:c.66463C>T (TTN)	XP_024308865.1:p.Arg22155Ter
XM_024453098.1:c.66382C>T (TTN)	XP_024308866.1:p.Arg22128Ter
XM_024453099.1:c.48145C>T (TTN)	XP_024308867.1:p.Arg16049Ter
XM_024453100.1:c.37999C>T (TTN)	XP_024308868.1:p.Arg12667Ter