Canonical Allele Identifier: CA349495583

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414503C>A (hg19) ; chr2:g.178549776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549776C>A , CM000664.2:g.178549776C>A	GRCh38
NC_000002.11:g.179414503C>A , CM000664.1:g.179414503C>A	GRCh37
NC_000002.10:g.179122749C>A	NCBI36
NG_011618.3:g.286027G>T , LRG_391:g.286027G>T
NG_051363.1:g.31950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84242G>T (TTN)	ENSP00000343764.6:p.Cys28081Phe
ENST00000342175.11:c.65327G>T (TTN)	ENSP00000340554.6:p.Cys21776Phe
ENST00000359218.10:c.65126G>T (TTN)	ENSP00000352154.5:p.Cys21709Phe
ENST00000342175.10:c.65327G>T (TTN)	ENSP00000340554.6:p.Cys21776Phe
ENST00000342992.10:c.84242G>T (TTN)	ENSP00000343764.6:p.Cys28081Phe
ENST00000359218.9:c.65126G>T (TTN)	ENSP00000352154.5:p.Cys21709Phe
ENST00000460472.6:c.64751G>T (TTN)	ENSP00000434586.1:p.Cys21584Phe
ENST00000589042.5:c.91946G>T (TTN) MANE Select	ENSP00000467141.1:p.Cys30649Phe
ENST00000591111.5:c.87023G>T (TTN)	ENSP00000465570.1:p.Cys29008Phe
ENST00000615779.4:c.87023G>T (TTN)	ENSP00000483597.1:p.Cys29008Phe
NM_001256850.1:c.87023G>T (TTN)	NP_001243779.1:p.Cys29008Phe
NM_001267550.2:c.91946G>T (TTN) MANE Select	NP_001254479.2:p.Cys30649Phe
NM_003319.4:c.64751G>T (TTN)	NP_003310.4:p.Cys21584Phe
NM_133378.4:c.84242G>T (TTN)	NP_596869.4:p.Cys28081Phe
NM_133432.3:c.65126G>T (TTN)	NP_597676.3:p.Cys21709Phe
NM_133437.4:c.65327G>T (TTN)	NP_597681.4:p.Cys21776Phe
NR_038271.1:n.447-21524C>A (TTN-AS1)
NR_038272.1:n.2043+7415C>A (TTN-AS1)
XM_011511729.1:c.91043G>T (TTN)	XP_011510031.1:p.Cys30348Phe
XM_011511730.1:c.64937G>T (TTN)	XP_011510032.1:p.Cys21646Phe
XM_011511731.1:c.64796G>T (TTN)	XP_011510033.1:p.Cys21599Phe
XM_017004819.1:c.90839G>T (TTN)	XP_016860308.1:p.Cys30280Phe
XM_017004820.1:c.86237G>T (TTN)	XP_016860309.1:p.Cys28746Phe
XM_017004821.1:c.86234G>T (TTN)	XP_016860310.1:p.Cys28745Phe
XM_017004822.1:c.83276G>T (TTN)	XP_016860311.1:p.Cys27759Phe
XM_017004823.1:c.64892G>T (TTN)	XP_016860312.1:p.Cys21631Phe
XM_024453094.1:c.86387G>T (TTN)	XP_024308862.1:p.Cys28796Phe
XM_024453095.1:c.86384G>T (TTN)	XP_024308863.1:p.Cys28795Phe
XM_024453096.1:c.85817G>T (TTN)	XP_024308864.1:p.Cys28606Phe
XM_024453097.1:c.83159G>T (TTN)	XP_024308865.1:p.Cys27720Phe
XM_024453098.1:c.83078G>T (TTN)	XP_024308866.1:p.Cys27693Phe
XM_024453099.1:c.64841G>T (TTN)	XP_024308867.1:p.Cys21614Phe
XM_024453100.1:c.54695G>T (TTN)	XP_024308868.1:p.Cys18232Phe