Canonical Allele Identifier: CA349407292

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395359T>A (hg19) ; chr2:g.178530632T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530632T>A , CM000664.2:g.178530632T>A	GRCh38
NC_000002.11:g.179395359T>A , CM000664.1:g.179395359T>A	GRCh37
NC_000002.10:g.179103605T>A	NCBI36
NG_011618.3:g.305171A>T , LRG_391:g.305171A>T
NG_051363.1:g.12806T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98279A>T (TTN)	ENSP00000343764.6:p.Glu32760Val
ENST00000342175.11:c.79364A>T (TTN)	ENSP00000340554.6:p.Glu26455Val
ENST00000359218.10:c.79163A>T (TTN)	ENSP00000352154.5:p.Glu26388Val
ENST00000342175.10:c.79364A>T (TTN)	ENSP00000340554.6:p.Glu26455Val
ENST00000342992.10:c.98279A>T (TTN)	ENSP00000343764.6:p.Glu32760Val
ENST00000359218.9:c.79163A>T (TTN)	ENSP00000352154.5:p.Glu26388Val
ENST00000460472.6:c.78788A>T (TTN)	ENSP00000434586.1:p.Glu26263Val
ENST00000589042.5:c.105983A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu35328Val
ENST00000591111.5:c.101060A>T (TTN)	ENSP00000465570.1:p.Glu33687Val
ENST00000615779.4:c.101060A>T (TTN)	ENSP00000483597.1:p.Glu33687Val
NM_001256850.1:c.101060A>T (TTN)	NP_001243779.1:p.Glu33687Val
NM_001267550.2:c.105983A>T (TTN) MANE Select	NP_001254479.2:p.Glu35328Val
NM_003319.4:c.78788A>T (TTN)	NP_003310.4:p.Glu26263Val
NM_133378.4:c.98279A>T (TTN)	NP_596869.4:p.Glu32760Val
NM_133432.3:c.79163A>T (TTN)	NP_597676.3:p.Glu26388Val
NM_133437.4:c.79364A>T (TTN)	NP_597681.4:p.Glu26455Val
NR_038271.1:n.446+6996T>A (TTN-AS1)
NR_038272.1:n.220-5100T>A (TTN-AS1)
XM_011511729.1:c.105080A>T (TTN)	XP_011510031.1:p.Glu35027Val
XM_011511730.1:c.78974A>T (TTN)	XP_011510032.1:p.Glu26325Val
XM_011511731.1:c.78833A>T (TTN)	XP_011510033.1:p.Glu26278Val
XM_017004819.1:c.104876A>T (TTN)	XP_016860308.1:p.Glu34959Val
XM_017004820.1:c.100274A>T (TTN)	XP_016860309.1:p.Glu33425Val
XM_017004821.1:c.100271A>T (TTN)	XP_016860310.1:p.Glu33424Val
XM_017004822.1:c.97313A>T (TTN)	XP_016860311.1:p.Glu32438Val
XM_017004823.1:c.78929A>T (TTN)	XP_016860312.1:p.Glu26310Val
XM_024453094.1:c.100424A>T (TTN)	XP_024308862.1:p.Glu33475Val
XM_024453095.1:c.100421A>T (TTN)	XP_024308863.1:p.Glu33474Val
XM_024453096.1:c.99854A>T (TTN)	XP_024308864.1:p.Glu33285Val
XM_024453097.1:c.97196A>T (TTN)	XP_024308865.1:p.Glu32399Val
XM_024453098.1:c.97115A>T (TTN)	XP_024308866.1:p.Glu32372Val
XM_024453099.1:c.78878A>T (TTN)	XP_024308867.1:p.Glu26293Val
XM_024453100.1:c.68732A>T (TTN)	XP_024308868.1:p.Glu22911Val