Canonical Allele Identifier: CA349621086

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435191G>C (hg19) ; chr2:g.178570464G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570464G>C , CM000664.2:g.178570464G>C	GRCh38
NC_000002.11:g.179435191G>C , CM000664.1:g.179435191G>C	GRCh37
NC_000002.10:g.179143437G>C	NCBI36
NG_011618.3:g.265339C>G , LRG_391:g.265339C>G
NG_051363.1:g.52638G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67964C>G (TTN)	ENSP00000343764.6:p.Thr22655Arg
ENST00000342175.11:c.49049C>G (TTN)	ENSP00000340554.6:p.Thr16350Arg
ENST00000359218.10:c.48848C>G (TTN)	ENSP00000352154.5:p.Thr16283Arg
ENST00000342175.10:c.49049C>G (TTN)	ENSP00000340554.6:p.Thr16350Arg
ENST00000342992.10:c.67964C>G (TTN)	ENSP00000343764.6:p.Thr22655Arg
ENST00000359218.9:c.48848C>G (TTN)	ENSP00000352154.5:p.Thr16283Arg
ENST00000460472.6:c.48473C>G (TTN)	ENSP00000434586.1:p.Thr16158Arg
ENST00000589042.5:c.75668C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr25223Arg
ENST00000591111.5:c.70745C>G (TTN)	ENSP00000465570.1:p.Thr23582Arg
ENST00000615779.4:c.70745C>G (TTN)	ENSP00000483597.1:p.Thr23582Arg
NM_001256850.1:c.70745C>G (TTN)	NP_001243779.1:p.Thr23582Arg
NM_001267550.2:c.75668C>G (TTN) MANE Select	NP_001254479.2:p.Thr25223Arg
NM_003319.4:c.48473C>G (TTN)	NP_003310.4:p.Thr16158Arg
NM_133378.4:c.67964C>G (TTN)	NP_596869.4:p.Thr22655Arg
NM_133432.3:c.48848C>G (TTN)	NP_597676.3:p.Thr16283Arg
NM_133437.4:c.49049C>G (TTN)	NP_597681.4:p.Thr16350Arg
NR_038271.1:n.447-836G>C (TTN-AS1)
NR_038272.1:n.2044-12108G>C (TTN-AS1)
XM_011511729.1:c.74765C>G (TTN)	XP_011510031.1:p.Thr24922Arg
XM_011511730.1:c.48659C>G (TTN)	XP_011510032.1:p.Thr16220Arg
XM_011511731.1:c.48518C>G (TTN)	XP_011510033.1:p.Thr16173Arg
XM_017004819.1:c.74561C>G (TTN)	XP_016860308.1:p.Thr24854Arg
XM_017004820.1:c.69959C>G (TTN)	XP_016860309.1:p.Thr23320Arg
XM_017004821.1:c.69956C>G (TTN)	XP_016860310.1:p.Thr23319Arg
XM_017004822.1:c.66998C>G (TTN)	XP_016860311.1:p.Thr22333Arg
XM_017004823.1:c.48614C>G (TTN)	XP_016860312.1:p.Thr16205Arg
XM_024453094.1:c.70109C>G (TTN)	XP_024308862.1:p.Thr23370Arg
XM_024453095.1:c.70106C>G (TTN)	XP_024308863.1:p.Thr23369Arg
XM_024453096.1:c.69539C>G (TTN)	XP_024308864.1:p.Thr23180Arg
XM_024453097.1:c.66881C>G (TTN)	XP_024308865.1:p.Thr22294Arg
XM_024453098.1:c.66800C>G (TTN)	XP_024308866.1:p.Thr22267Arg
XM_024453099.1:c.48563C>G (TTN)	XP_024308867.1:p.Thr16188Arg
XM_024453100.1:c.38417C>G (TTN)	XP_024308868.1:p.Thr12806Arg