Canonical Allele Identifier: CA349600512

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179431920T>A (hg19) ; chr2:g.178567193T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567193T>A , CM000664.2:g.178567193T>A	GRCh38
NC_000002.11:g.179431920T>A , CM000664.1:g.179431920T>A	GRCh37
NC_000002.10:g.179140166T>A	NCBI36
NG_011618.3:g.268610A>T , LRG_391:g.268610A>T
NG_051363.1:g.49367T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71235A>T (TTN)	ENSP00000343764.6:p.Gln23745His
ENST00000342175.11:c.52320A>T (TTN)	ENSP00000340554.6:p.Gln17440His
ENST00000359218.10:c.52119A>T (TTN)	ENSP00000352154.5:p.Gln17373His
ENST00000342175.10:c.52320A>T (TTN)	ENSP00000340554.6:p.Gln17440His
ENST00000342992.10:c.71235A>T (TTN)	ENSP00000343764.6:p.Gln23745His
ENST00000359218.9:c.52119A>T (TTN)	ENSP00000352154.5:p.Gln17373His
ENST00000460472.6:c.51744A>T (TTN)	ENSP00000434586.1:p.Gln17248His
ENST00000589042.5:c.78939A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln26313His
ENST00000591111.5:c.74016A>T (TTN)	ENSP00000465570.1:p.Gln24672His
ENST00000615779.4:c.74016A>T (TTN)	ENSP00000483597.1:p.Gln24672His
NM_001256850.1:c.74016A>T (TTN)	NP_001243779.1:p.Gln24672His
NM_001267550.2:c.78939A>T (TTN) MANE Select	NP_001254479.2:p.Gln26313His
NM_003319.4:c.51744A>T (TTN)	NP_003310.4:p.Gln17248His
NM_133378.4:c.71235A>T (TTN)	NP_596869.4:p.Gln23745His
NM_133432.3:c.52119A>T (TTN)	NP_597676.3:p.Gln17373His
NM_133437.4:c.52320A>T (TTN)	NP_597681.4:p.Gln17440His
NR_038271.1:n.447-4107T>A (TTN-AS1)
NR_038272.1:n.2044-15379T>A (TTN-AS1)
XM_011511729.1:c.78036A>T (TTN)	XP_011510031.1:p.Gln26012His
XM_011511730.1:c.51930A>T (TTN)	XP_011510032.1:p.Gln17310His
XM_011511731.1:c.51789A>T (TTN)	XP_011510033.1:p.Gln17263His
XM_017004819.1:c.77832A>T (TTN)	XP_016860308.1:p.Gln25944His
XM_017004820.1:c.73230A>T (TTN)	XP_016860309.1:p.Gln24410His
XM_017004821.1:c.73227A>T (TTN)	XP_016860310.1:p.Gln24409His
XM_017004822.1:c.70269A>T (TTN)	XP_016860311.1:p.Gln23423His
XM_017004823.1:c.51885A>T (TTN)	XP_016860312.1:p.Gln17295His
XM_024453094.1:c.73380A>T (TTN)	XP_024308862.1:p.Gln24460His
XM_024453095.1:c.73377A>T (TTN)	XP_024308863.1:p.Gln24459His
XM_024453096.1:c.72810A>T (TTN)	XP_024308864.1:p.Gln24270His
XM_024453097.1:c.70152A>T (TTN)	XP_024308865.1:p.Gln23384His
XM_024453098.1:c.70071A>T (TTN)	XP_024308866.1:p.Gln23357His
XM_024453099.1:c.51834A>T (TTN)	XP_024308867.1:p.Gln17278His
XM_024453100.1:c.41688A>T (TTN)	XP_024308868.1:p.Gln13896His