Canonical Allele Identifier: CA430114031

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495650G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630923G>T , CM000664.2:g.178630923G>T	GRCh38
NC_000002.11:g.179495650G>T , CM000664.1:g.179495650G>T	GRCh37
NC_000002.10:g.179203895G>T	NCBI36
NG_011618.3:g.204880C>A , LRG_391:g.204880C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36331C>A	ENSP00000343764.6:p.Arg12111=
ENST00000342175.11:c.17416C>A	ENSP00000340554.6:p.Arg5806=
ENST00000359218.10:c.17215C>A	ENSP00000352154.5:p.Arg5739=
ENST00000342175.10:c.17416C>A	ENSP00000340554.6:p.Arg5806=
ENST00000342992.10:c.36331C>A	ENSP00000343764.6:p.Arg12111=
ENST00000359218.9:c.17215C>A	ENSP00000352154.5:p.Arg5739=
ENST00000460472.6:c.16840C>A	ENSP00000434586.1:p.Arg5614=
ENST00000589042.5:c.44035C>A MANE Select	ENSP00000467141.1:p.Arg14679=
ENST00000591111.5:c.39112C>A	ENSP00000465570.1:p.Arg13038=
ENST00000615779.4:c.39112C>A	ENSP00000483597.1:p.Arg13038=
NM_001256850.1:c.39112C>A	NP_001243779.1:p.Arg13038=
NM_001267550.2:c.44035C>A MANE Select	NP_001254479.2:p.Arg14679=
NM_003319.4:c.16840C>A	NP_003310.4:p.Arg5614=
NM_133378.4:c.36331C>A	NP_596869.4:p.Arg12111=
NM_133432.3:c.17215C>A	NP_597676.3:p.Arg5739=
NM_133437.4:c.17416C>A	NP_597681.4:p.Arg5806=
XM_011511729.1:c.43132C>A	XP_011510031.1:p.Arg14378=
XM_011511730.1:c.17026C>A	XP_011510032.1:p.Arg5676=
XM_011511731.1:c.16885C>A	XP_011510033.1:p.Arg5629=
XM_017004819.1:c.42928C>A	XP_016860308.1:p.Arg14310=
XM_017004820.1:c.38326C>A	XP_016860309.1:p.Arg12776=
XM_017004821.1:c.38323C>A	XP_016860310.1:p.Arg12775=
XM_017004822.1:c.35365C>A	XP_016860311.1:p.Arg11789=
XM_017004823.1:c.16981C>A	XP_016860312.1:p.Arg5661=
XM_024453094.1:c.38476C>A	XP_024308862.1:p.Arg12826=
XM_024453095.1:c.38473C>A	XP_024308863.1:p.Arg12825=
XM_024453096.1:c.37906C>A	XP_024308864.1:p.Arg12636=
XM_024453097.1:c.35248C>A	XP_024308865.1:p.Arg11750=
XM_024453098.1:c.35167C>A	XP_024308866.1:p.Arg11723=
XM_024453099.1:c.16930C>A	XP_024308867.1:p.Arg5644=
XM_024453100.1:c.6784C>A	XP_024308868.1:p.Arg2262=