Canonical Allele Identifier: CA349507104

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179458751A>G (hg19) ; chr2:g.178594024A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594024A>G , CM000664.2:g.178594024A>G	GRCh38
NC_000002.11:g.179458751A>G , CM000664.1:g.179458751A>G	GRCh37
NC_000002.10:g.179166997A>G	NCBI36
NG_011618.3:g.241779T>C , LRG_391:g.241779T>C
NG_051363.1:g.76198A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.50665T>C (TTN)	ENSP00000343764.6:p.Tyr16889His
ENST00000342175.11:c.31750T>C (TTN)	ENSP00000340554.6:p.Tyr10584His
ENST00000359218.10:c.31549T>C (TTN)	ENSP00000352154.5:p.Tyr10517His
ENST00000342175.10:c.31750T>C (TTN)	ENSP00000340554.6:p.Tyr10584His
ENST00000342992.10:c.50665T>C (TTN)	ENSP00000343764.6:p.Tyr16889His
ENST00000359218.9:c.31549T>C (TTN)	ENSP00000352154.5:p.Tyr10517His
ENST00000460472.6:c.31174T>C (TTN)	ENSP00000434586.1:p.Tyr10392His
ENST00000589042.5:c.58369T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr19457His
ENST00000591111.5:c.53446T>C (TTN)	ENSP00000465570.1:p.Tyr17816His
ENST00000615779.4:c.53446T>C (TTN)	ENSP00000483597.1:p.Tyr17816His
NM_001256850.1:c.53446T>C (TTN)	NP_001243779.1:p.Tyr17816His
NM_001267550.2:c.58369T>C (TTN) MANE Select	NP_001254479.2:p.Tyr19457His
NM_003319.4:c.31174T>C (TTN)	NP_003310.4:p.Tyr10392His
NM_133378.4:c.50665T>C (TTN)	NP_596869.4:p.Tyr16889His
NM_133432.3:c.31549T>C (TTN)	NP_597676.3:p.Tyr10517His
NM_133437.4:c.31750T>C (TTN)	NP_597681.4:p.Tyr10584His
NR_038271.1:n.597-3572A>G (TTN-AS1)
NR_038272.1:n.3364+2710A>G (TTN-AS1)
XM_011511729.1:c.57466T>C (TTN)	XP_011510031.1:p.Tyr19156His
XM_011511730.1:c.31360T>C (TTN)	XP_011510032.1:p.Tyr10454His
XM_011511731.1:c.31219T>C (TTN)	XP_011510033.1:p.Tyr10407His
XM_017004819.1:c.57262T>C (TTN)	XP_016860308.1:p.Tyr19088His
XM_017004820.1:c.52660T>C (TTN)	XP_016860309.1:p.Tyr17554His
XM_017004821.1:c.52657T>C (TTN)	XP_016860310.1:p.Tyr17553His
XM_017004822.1:c.49699T>C (TTN)	XP_016860311.1:p.Tyr16567His
XM_017004823.1:c.31315T>C (TTN)	XP_016860312.1:p.Tyr10439His
XM_024453094.1:c.52810T>C (TTN)	XP_024308862.1:p.Tyr17604His
XM_024453095.1:c.52807T>C (TTN)	XP_024308863.1:p.Tyr17603His
XM_024453096.1:c.52240T>C (TTN)	XP_024308864.1:p.Tyr17414His
XM_024453097.1:c.49582T>C (TTN)	XP_024308865.1:p.Tyr16528His
XM_024453098.1:c.49501T>C (TTN)	XP_024308866.1:p.Tyr16501His
XM_024453099.1:c.31264T>C (TTN)	XP_024308867.1:p.Tyr10422His
XM_024453100.1:c.21118T>C (TTN)	XP_024308868.1:p.Tyr7040His