Canonical Allele Identifier: CA349480239

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455758T>G (hg19) ; chr2:g.178591031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591031T>G , CM000664.2:g.178591031T>G	GRCh38
NC_000002.11:g.179455758T>G , CM000664.1:g.179455758T>G	GRCh37
NC_000002.10:g.179164004T>G	NCBI36
NG_011618.3:g.244772A>C , LRG_391:g.244772A>C
NG_051363.1:g.73205T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52990A>C (TTN)	ENSP00000343764.6:p.Lys17664Gln
ENST00000342175.11:c.34075A>C (TTN)	ENSP00000340554.6:p.Lys11359Gln
ENST00000359218.10:c.33874A>C (TTN)	ENSP00000352154.5:p.Lys11292Gln
ENST00000342175.10:c.34075A>C (TTN)	ENSP00000340554.6:p.Lys11359Gln
ENST00000342992.10:c.52990A>C (TTN)	ENSP00000343764.6:p.Lys17664Gln
ENST00000359218.9:c.33874A>C (TTN)	ENSP00000352154.5:p.Lys11292Gln
ENST00000460472.6:c.33499A>C (TTN)	ENSP00000434586.1:p.Lys11167Gln
ENST00000589042.5:c.60694A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys20232Gln
ENST00000591111.5:c.55771A>C (TTN)	ENSP00000465570.1:p.Lys18591Gln
ENST00000615779.4:c.55771A>C (TTN)	ENSP00000483597.1:p.Lys18591Gln
NM_001256850.1:c.55771A>C (TTN)	NP_001243779.1:p.Lys18591Gln
NM_001267550.2:c.60694A>C (TTN) MANE Select	NP_001254479.2:p.Lys20232Gln
NM_003319.4:c.33499A>C (TTN)	NP_003310.4:p.Lys11167Gln
NM_133378.4:c.52990A>C (TTN)	NP_596869.4:p.Lys17664Gln
NM_133432.3:c.33874A>C (TTN)	NP_597676.3:p.Lys11292Gln
NM_133437.4:c.34075A>C (TTN)	NP_597681.4:p.Lys11359Gln
NR_038271.1:n.597-6565T>G (TTN-AS1)
NR_038272.1:n.3189-108T>G (TTN-AS1)
XM_011511729.1:c.59791A>C (TTN)	XP_011510031.1:p.Lys19931Gln
XM_011511730.1:c.33685A>C (TTN)	XP_011510032.1:p.Lys11229Gln
XM_011511731.1:c.33544A>C (TTN)	XP_011510033.1:p.Lys11182Gln
XM_017004819.1:c.59587A>C (TTN)	XP_016860308.1:p.Lys19863Gln
XM_017004820.1:c.54985A>C (TTN)	XP_016860309.1:p.Lys18329Gln
XM_017004821.1:c.54982A>C (TTN)	XP_016860310.1:p.Lys18328Gln
XM_017004822.1:c.52024A>C (TTN)	XP_016860311.1:p.Lys17342Gln
XM_017004823.1:c.33640A>C (TTN)	XP_016860312.1:p.Lys11214Gln
XM_024453094.1:c.55135A>C (TTN)	XP_024308862.1:p.Lys18379Gln
XM_024453095.1:c.55132A>C (TTN)	XP_024308863.1:p.Lys18378Gln
XM_024453096.1:c.54565A>C (TTN)	XP_024308864.1:p.Lys18189Gln
XM_024453097.1:c.51907A>C (TTN)	XP_024308865.1:p.Lys17303Gln
XM_024453098.1:c.51826A>C (TTN)	XP_024308866.1:p.Lys17276Gln
XM_024453099.1:c.33589A>C (TTN)	XP_024308867.1:p.Lys11197Gln
XM_024453100.1:c.23443A>C (TTN)	XP_024308868.1:p.Lys7815Gln