Canonical Allele Identifier: CA1987539

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 500662
• ClinVar RCV Id: RCV000598113 ; RCV000727216
• dbSNP Id: rs144922355
• ExAC: 2:179414565 T / C
• gnomAD v2: 2-179414565-T-C
• gnomAD v4: 2-178549838-T-C
• MyVariant Identifiers: chr2:g.179414565T>C (hg19) ; chr2:g.178549838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549838T>C , CM000664.2:g.178549838T>C	GRCh38
NC_000002.11:g.179414565T>C , CM000664.1:g.179414565T>C	GRCh37
NC_000002.10:g.179122811T>C	NCBI36
NG_011618.3:g.285965A>G , LRG_391:g.285965A>G
NG_051363.1:g.32012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84180A>G (TTN)	ENSP00000343764.6:p.Arg28060=
ENST00000342175.11:c.65265A>G (TTN)	ENSP00000340554.6:p.Arg21755=
ENST00000359218.10:c.65064A>G (TTN)	ENSP00000352154.5:p.Arg21688=
ENST00000342175.10:c.65265A>G (TTN)	ENSP00000340554.6:p.Arg21755=
ENST00000342992.10:c.84180A>G (TTN)	ENSP00000343764.6:p.Arg28060=
ENST00000359218.9:c.65064A>G (TTN)	ENSP00000352154.5:p.Arg21688=
ENST00000460472.6:c.64689A>G (TTN)	ENSP00000434586.1:p.Arg21563=
ENST00000589042.5:c.91884A>G (TTN) MANE Select	ENSP00000467141.1:p.Arg30628=
ENST00000591111.5:c.86961A>G (TTN)	ENSP00000465570.1:p.Arg28987=
ENST00000615779.4:c.86961A>G (TTN)	ENSP00000483597.1:p.Arg28987=
NM_001256850.1:c.86961A>G (TTN)	NP_001243779.1:p.Arg28987=
NM_001267550.2:c.91884A>G (TTN) MANE Select	NP_001254479.2:p.Arg30628=
NM_003319.4:c.64689A>G (TTN)	NP_003310.4:p.Arg21563=
NM_133378.4:c.84180A>G (TTN)	NP_596869.4:p.Arg28060=
NM_133432.3:c.65064A>G (TTN)	NP_597676.3:p.Arg21688=
NM_133437.4:c.65265A>G (TTN)	NP_597681.4:p.Arg21755=
NR_038271.1:n.447-21462T>C (TTN-AS1)
NR_038272.1:n.2043+7477T>C (TTN-AS1)
XM_011511729.1:c.90981A>G (TTN)	XP_011510031.1:p.Arg30327=
XM_011511730.1:c.64875A>G (TTN)	XP_011510032.1:p.Arg21625=
XM_011511731.1:c.64734A>G (TTN)	XP_011510033.1:p.Arg21578=
XM_017004819.1:c.90777A>G (TTN)	XP_016860308.1:p.Arg30259=
XM_017004820.1:c.86175A>G (TTN)	XP_016860309.1:p.Arg28725=
XM_017004821.1:c.86172A>G (TTN)	XP_016860310.1:p.Arg28724=
XM_017004822.1:c.83214A>G (TTN)	XP_016860311.1:p.Arg27738=
XM_017004823.1:c.64830A>G (TTN)	XP_016860312.1:p.Arg21610=
XM_024453094.1:c.86325A>G (TTN)	XP_024308862.1:p.Arg28775=
XM_024453095.1:c.86322A>G (TTN)	XP_024308863.1:p.Arg28774=
XM_024453096.1:c.85755A>G (TTN)	XP_024308864.1:p.Arg28585=
XM_024453097.1:c.83097A>G (TTN)	XP_024308865.1:p.Arg27699=
XM_024453098.1:c.83016A>G (TTN)	XP_024308866.1:p.Arg27672=
XM_024453099.1:c.64779A>G (TTN)	XP_024308867.1:p.Arg21593=
XM_024453100.1:c.54633A>G (TTN)	XP_024308868.1:p.Arg18211=