Canonical Allele Identifier: CA349646331

Gene: TTN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36332G>C	ENSP00000343764.6:p.Arg12111Pro
ENST00000342175.11:c.17417G>C	ENSP00000340554.6:p.Arg5806Pro
ENST00000359218.10:c.17216G>C	ENSP00000352154.5:p.Arg5739Pro
ENST00000342175.10:c.17417G>C	ENSP00000340554.6:p.Arg5806Pro
ENST00000342992.10:c.36332G>C	ENSP00000343764.6:p.Arg12111Pro
ENST00000359218.9:c.17216G>C	ENSP00000352154.5:p.Arg5739Pro
ENST00000460472.6:c.16841G>C	ENSP00000434586.1:p.Arg5614Pro
ENST00000589042.5:c.44036G>C MANE Select	ENSP00000467141.1:p.Arg14679Pro
ENST00000591111.5:c.39113G>C	ENSP00000465570.1:p.Arg13038Pro
ENST00000615779.4:c.39113G>C	ENSP00000483597.1:p.Arg13038Pro
NM_001256850.1:c.39113G>C	NP_001243779.1:p.Arg13038Pro
NM_001267550.2:c.44036G>C MANE Select	NP_001254479.2:p.Arg14679Pro
NM_003319.4:c.16841G>C	NP_003310.4:p.Arg5614Pro
NM_133378.4:c.36332G>C	NP_596869.4:p.Arg12111Pro
NM_133432.3:c.17216G>C	NP_597676.3:p.Arg5739Pro
NM_133437.4:c.17417G>C	NP_597681.4:p.Arg5806Pro
XM_011511729.1:c.43133G>C	XP_011510031.1:p.Arg14378Pro
XM_011511730.1:c.17027G>C	XP_011510032.1:p.Arg5676Pro
XM_011511731.1:c.16886G>C	XP_011510033.1:p.Arg5629Pro
XM_017004819.1:c.42929G>C	XP_016860308.1:p.Arg14310Pro
XM_017004820.1:c.38327G>C	XP_016860309.1:p.Arg12776Pro
XM_017004821.1:c.38324G>C	XP_016860310.1:p.Arg12775Pro
XM_017004822.1:c.35366G>C	XP_016860311.1:p.Arg11789Pro
XM_017004823.1:c.16982G>C	XP_016860312.1:p.Arg5661Pro
XM_024453094.1:c.38477G>C	XP_024308862.1:p.Arg12826Pro
XM_024453095.1:c.38474G>C	XP_024308863.1:p.Arg12825Pro
XM_024453096.1:c.37907G>C	XP_024308864.1:p.Arg12636Pro
XM_024453097.1:c.35249G>C	XP_024308865.1:p.Arg11750Pro
XM_024453098.1:c.35168G>C	XP_024308866.1:p.Arg11723Pro
XM_024453099.1:c.16931G>C	XP_024308867.1:p.Arg5644Pro
XM_024453100.1:c.6785G>C	XP_024308868.1:p.Arg2262Pro