Canonical Allele Identifier: CA349494144

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457502C>A (hg19) ; chr2:g.178592775C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592775C>A , CM000664.2:g.178592775C>A	GRCh38
NC_000002.11:g.179457502C>A , CM000664.1:g.179457502C>A	GRCh37
NC_000002.10:g.179165748C>A	NCBI36
NG_011618.3:g.243028G>T , LRG_391:g.243028G>T
NG_051363.1:g.74949C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51640G>T (TTN)	ENSP00000343764.6:p.Glu17214Ter
ENST00000342175.11:c.32725G>T (TTN)	ENSP00000340554.6:p.Glu10909Ter
ENST00000359218.10:c.32524G>T (TTN)	ENSP00000352154.5:p.Glu10842Ter
ENST00000342175.10:c.32725G>T (TTN)	ENSP00000340554.6:p.Glu10909Ter
ENST00000342992.10:c.51640G>T (TTN)	ENSP00000343764.6:p.Glu17214Ter
ENST00000359218.9:c.32524G>T (TTN)	ENSP00000352154.5:p.Glu10842Ter
ENST00000460472.6:c.32149G>T (TTN)	ENSP00000434586.1:p.Glu10717Ter
ENST00000589042.5:c.59344G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu19782Ter
ENST00000591111.5:c.54421G>T (TTN)	ENSP00000465570.1:p.Glu18141Ter
ENST00000615779.4:c.54421G>T (TTN)	ENSP00000483597.1:p.Glu18141Ter
NM_001256850.1:c.54421G>T (TTN)	NP_001243779.1:p.Glu18141Ter
NM_001267550.2:c.59344G>T (TTN) MANE Select	NP_001254479.2:p.Glu19782Ter
NM_003319.4:c.32149G>T (TTN)	NP_003310.4:p.Glu10717Ter
NM_133378.4:c.51640G>T (TTN)	NP_596869.4:p.Glu17214Ter
NM_133432.3:c.32524G>T (TTN)	NP_597676.3:p.Glu10842Ter
NM_133437.4:c.32725G>T (TTN)	NP_597681.4:p.Glu10909Ter
NR_038271.1:n.597-4821C>A (TTN-AS1)
NR_038272.1:n.3364+1461C>A (TTN-AS1)
XM_011511729.1:c.58441G>T (TTN)	XP_011510031.1:p.Glu19481Ter
XM_011511730.1:c.32335G>T (TTN)	XP_011510032.1:p.Glu10779Ter
XM_011511731.1:c.32194G>T (TTN)	XP_011510033.1:p.Glu10732Ter
XM_017004819.1:c.58237G>T (TTN)	XP_016860308.1:p.Glu19413Ter
XM_017004820.1:c.53635G>T (TTN)	XP_016860309.1:p.Glu17879Ter
XM_017004821.1:c.53632G>T (TTN)	XP_016860310.1:p.Glu17878Ter
XM_017004822.1:c.50674G>T (TTN)	XP_016860311.1:p.Glu16892Ter
XM_017004823.1:c.32290G>T (TTN)	XP_016860312.1:p.Glu10764Ter
XM_024453094.1:c.53785G>T (TTN)	XP_024308862.1:p.Glu17929Ter
XM_024453095.1:c.53782G>T (TTN)	XP_024308863.1:p.Glu17928Ter
XM_024453096.1:c.53215G>T (TTN)	XP_024308864.1:p.Glu17739Ter
XM_024453097.1:c.50557G>T (TTN)	XP_024308865.1:p.Glu16853Ter
XM_024453098.1:c.50476G>T (TTN)	XP_024308866.1:p.Glu16826Ter
XM_024453099.1:c.32239G>T (TTN)	XP_024308867.1:p.Glu10747Ter
XM_024453100.1:c.22093G>T (TTN)	XP_024308868.1:p.Glu7365Ter