Canonical Allele Identifier: CA349612890

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433837T>G (hg19) ; chr2:g.178569110T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569110T>G , CM000664.2:g.178569110T>G	GRCh38
NC_000002.11:g.179433837T>G , CM000664.1:g.179433837T>G	GRCh37
NC_000002.10:g.179142083T>G	NCBI36
NG_011618.3:g.266693A>C , LRG_391:g.266693A>C
NG_051363.1:g.51284T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69318A>C (TTN)	ENSP00000343764.6:p.Arg23106Ser
ENST00000342175.11:c.50403A>C (TTN)	ENSP00000340554.6:p.Arg16801Ser
ENST00000359218.10:c.50202A>C (TTN)	ENSP00000352154.5:p.Arg16734Ser
ENST00000342175.10:c.50403A>C (TTN)	ENSP00000340554.6:p.Arg16801Ser
ENST00000342992.10:c.69318A>C (TTN)	ENSP00000343764.6:p.Arg23106Ser
ENST00000359218.9:c.50202A>C (TTN)	ENSP00000352154.5:p.Arg16734Ser
ENST00000460472.6:c.49827A>C (TTN)	ENSP00000434586.1:p.Arg16609Ser
ENST00000589042.5:c.77022A>C (TTN) MANE Select	ENSP00000467141.1:p.Arg25674Ser
ENST00000591111.5:c.72099A>C (TTN)	ENSP00000465570.1:p.Arg24033Ser
ENST00000615779.4:c.72099A>C (TTN)	ENSP00000483597.1:p.Arg24033Ser
NM_001256850.1:c.72099A>C (TTN)	NP_001243779.1:p.Arg24033Ser
NM_001267550.2:c.77022A>C (TTN) MANE Select	NP_001254479.2:p.Arg25674Ser
NM_003319.4:c.49827A>C (TTN)	NP_003310.4:p.Arg16609Ser
NM_133378.4:c.69318A>C (TTN)	NP_596869.4:p.Arg23106Ser
NM_133432.3:c.50202A>C (TTN)	NP_597676.3:p.Arg16734Ser
NM_133437.4:c.50403A>C (TTN)	NP_597681.4:p.Arg16801Ser
NR_038271.1:n.447-2190T>G (TTN-AS1)
NR_038272.1:n.2044-13462T>G (TTN-AS1)
XM_011511729.1:c.76119A>C (TTN)	XP_011510031.1:p.Arg25373Ser
XM_011511730.1:c.50013A>C (TTN)	XP_011510032.1:p.Arg16671Ser
XM_011511731.1:c.49872A>C (TTN)	XP_011510033.1:p.Arg16624Ser
XM_017004819.1:c.75915A>C (TTN)	XP_016860308.1:p.Arg25305Ser
XM_017004820.1:c.71313A>C (TTN)	XP_016860309.1:p.Arg23771Ser
XM_017004821.1:c.71310A>C (TTN)	XP_016860310.1:p.Arg23770Ser
XM_017004822.1:c.68352A>C (TTN)	XP_016860311.1:p.Arg22784Ser
XM_017004823.1:c.49968A>C (TTN)	XP_016860312.1:p.Arg16656Ser
XM_024453094.1:c.71463A>C (TTN)	XP_024308862.1:p.Arg23821Ser
XM_024453095.1:c.71460A>C (TTN)	XP_024308863.1:p.Arg23820Ser
XM_024453096.1:c.70893A>C (TTN)	XP_024308864.1:p.Arg23631Ser
XM_024453097.1:c.68235A>C (TTN)	XP_024308865.1:p.Arg22745Ser
XM_024453098.1:c.68154A>C (TTN)	XP_024308866.1:p.Arg22718Ser
XM_024453099.1:c.49917A>C (TTN)	XP_024308867.1:p.Arg16639Ser
XM_024453100.1:c.39771A>C (TTN)	XP_024308868.1:p.Arg13257Ser