Canonical Allele Identifier: CA349450719

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408601T>G (hg19) ; chr2:g.178543874T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543874T>G , CM000664.2:g.178543874T>G	GRCh38
NC_000002.11:g.179408601T>G , CM000664.1:g.179408601T>G	GRCh37
NC_000002.10:g.179116847T>G	NCBI36
NG_011618.3:g.291929A>C , LRG_391:g.291929A>C
NG_051363.1:g.26048T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88566A>C (TTN)	ENSP00000343764.6:p.Gln29522His
ENST00000342175.11:c.69651A>C (TTN)	ENSP00000340554.6:p.Gln23217His
ENST00000359218.10:c.69450A>C (TTN)	ENSP00000352154.5:p.Gln23150His
ENST00000342175.10:c.69651A>C (TTN)	ENSP00000340554.6:p.Gln23217His
ENST00000342992.10:c.88566A>C (TTN)	ENSP00000343764.6:p.Gln29522His
ENST00000359218.9:c.69450A>C (TTN)	ENSP00000352154.5:p.Gln23150His
ENST00000460472.6:c.69075A>C (TTN)	ENSP00000434586.1:p.Gln23025His
ENST00000589042.5:c.96270A>C (TTN) MANE Select	ENSP00000467141.1:p.Gln32090His
ENST00000591111.5:c.91347A>C (TTN)	ENSP00000465570.1:p.Gln30449His
ENST00000615779.4:c.91347A>C (TTN)	ENSP00000483597.1:p.Gln30449His
NM_001256850.1:c.91347A>C (TTN)	NP_001243779.1:p.Gln30449His
NM_001267550.2:c.96270A>C (TTN) MANE Select	NP_001254479.2:p.Gln32090His
NM_003319.4:c.69075A>C (TTN)	NP_003310.4:p.Gln23025His
NM_133378.4:c.88566A>C (TTN)	NP_596869.4:p.Gln29522His
NM_133432.3:c.69450A>C (TTN)	NP_597676.3:p.Gln23150His
NM_133437.4:c.69651A>C (TTN)	NP_597681.4:p.Gln23217His
NR_038271.1:n.446+20238T>G (TTN-AS1)
NR_038272.1:n.2043+1513T>G (TTN-AS1)
XM_011511729.1:c.95367A>C (TTN)	XP_011510031.1:p.Gln31789His
XM_011511730.1:c.69261A>C (TTN)	XP_011510032.1:p.Gln23087His
XM_011511731.1:c.69120A>C (TTN)	XP_011510033.1:p.Gln23040His
XM_017004819.1:c.95163A>C (TTN)	XP_016860308.1:p.Gln31721His
XM_017004820.1:c.90561A>C (TTN)	XP_016860309.1:p.Gln30187His
XM_017004821.1:c.90558A>C (TTN)	XP_016860310.1:p.Gln30186His
XM_017004822.1:c.87600A>C (TTN)	XP_016860311.1:p.Gln29200His
XM_017004823.1:c.69216A>C (TTN)	XP_016860312.1:p.Gln23072His
XM_024453094.1:c.90711A>C (TTN)	XP_024308862.1:p.Gln30237His
XM_024453095.1:c.90708A>C (TTN)	XP_024308863.1:p.Gln30236His
XM_024453096.1:c.90141A>C (TTN)	XP_024308864.1:p.Gln30047His
XM_024453097.1:c.87483A>C (TTN)	XP_024308865.1:p.Gln29161His
XM_024453098.1:c.87402A>C (TTN)	XP_024308866.1:p.Gln29134His
XM_024453099.1:c.69165A>C (TTN)	XP_024308867.1:p.Gln23055His
XM_024453100.1:c.59019A>C (TTN)	XP_024308868.1:p.Gln19673His