Canonical Allele Identifier: CA349646329

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495649C>A (hg19) ; chr2:g.178630922C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630922C>A , CM000664.2:g.178630922C>A	GRCh38
NC_000002.11:g.179495649C>A , CM000664.1:g.179495649C>A	GRCh37
NC_000002.10:g.179203894C>A	NCBI36
NG_011618.3:g.204881G>T , LRG_391:g.204881G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36332G>T	ENSP00000343764.6:p.Arg12111Leu
ENST00000342175.11:c.17417G>T	ENSP00000340554.6:p.Arg5806Leu
ENST00000359218.10:c.17216G>T	ENSP00000352154.5:p.Arg5739Leu
ENST00000342175.10:c.17417G>T	ENSP00000340554.6:p.Arg5806Leu
ENST00000342992.10:c.36332G>T	ENSP00000343764.6:p.Arg12111Leu
ENST00000359218.9:c.17216G>T	ENSP00000352154.5:p.Arg5739Leu
ENST00000460472.6:c.16841G>T	ENSP00000434586.1:p.Arg5614Leu
ENST00000589042.5:c.44036G>T MANE Select	ENSP00000467141.1:p.Arg14679Leu
ENST00000591111.5:c.39113G>T	ENSP00000465570.1:p.Arg13038Leu
ENST00000615779.4:c.39113G>T	ENSP00000483597.1:p.Arg13038Leu
NM_001256850.1:c.39113G>T	NP_001243779.1:p.Arg13038Leu
NM_001267550.2:c.44036G>T MANE Select	NP_001254479.2:p.Arg14679Leu
NM_003319.4:c.16841G>T	NP_003310.4:p.Arg5614Leu
NM_133378.4:c.36332G>T	NP_596869.4:p.Arg12111Leu
NM_133432.3:c.17216G>T	NP_597676.3:p.Arg5739Leu
NM_133437.4:c.17417G>T	NP_597681.4:p.Arg5806Leu
XM_011511729.1:c.43133G>T	XP_011510031.1:p.Arg14378Leu
XM_011511730.1:c.17027G>T	XP_011510032.1:p.Arg5676Leu
XM_011511731.1:c.16886G>T	XP_011510033.1:p.Arg5629Leu
XM_017004819.1:c.42929G>T	XP_016860308.1:p.Arg14310Leu
XM_017004820.1:c.38327G>T	XP_016860309.1:p.Arg12776Leu
XM_017004821.1:c.38324G>T	XP_016860310.1:p.Arg12775Leu
XM_017004822.1:c.35366G>T	XP_016860311.1:p.Arg11789Leu
XM_017004823.1:c.16982G>T	XP_016860312.1:p.Arg5661Leu
XM_024453094.1:c.38477G>T	XP_024308862.1:p.Arg12826Leu
XM_024453095.1:c.38474G>T	XP_024308863.1:p.Arg12825Leu
XM_024453096.1:c.37907G>T	XP_024308864.1:p.Arg12636Leu
XM_024453097.1:c.35249G>T	XP_024308865.1:p.Arg11750Leu
XM_024453098.1:c.35168G>T	XP_024308866.1:p.Arg11723Leu
XM_024453099.1:c.16931G>T	XP_024308867.1:p.Arg5644Leu
XM_024453100.1:c.6785G>T	XP_024308868.1:p.Arg2262Leu