Canonical Allele Identifier: CA349621790

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435275A>G (hg19) ; chr2:g.178570548A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570548A>G , CM000664.2:g.178570548A>G	GRCh38
NC_000002.11:g.179435275A>G , CM000664.1:g.179435275A>G	GRCh37
NC_000002.10:g.179143521A>G	NCBI36
NG_011618.3:g.265255T>C , LRG_391:g.265255T>C
NG_051363.1:g.52722A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67880T>C (TTN)	ENSP00000343764.6:p.Val22627Ala
ENST00000342175.11:c.48965T>C (TTN)	ENSP00000340554.6:p.Val16322Ala
ENST00000359218.10:c.48764T>C (TTN)	ENSP00000352154.5:p.Val16255Ala
ENST00000342175.10:c.48965T>C (TTN)	ENSP00000340554.6:p.Val16322Ala
ENST00000342992.10:c.67880T>C (TTN)	ENSP00000343764.6:p.Val22627Ala
ENST00000359218.9:c.48764T>C (TTN)	ENSP00000352154.5:p.Val16255Ala
ENST00000460472.6:c.48389T>C (TTN)	ENSP00000434586.1:p.Val16130Ala
ENST00000589042.5:c.75584T>C (TTN) MANE Select	ENSP00000467141.1:p.Val25195Ala
ENST00000591111.5:c.70661T>C (TTN)	ENSP00000465570.1:p.Val23554Ala
ENST00000615779.4:c.70661T>C (TTN)	ENSP00000483597.1:p.Val23554Ala
NM_001256850.1:c.70661T>C (TTN)	NP_001243779.1:p.Val23554Ala
NM_001267550.2:c.75584T>C (TTN) MANE Select	NP_001254479.2:p.Val25195Ala
NM_003319.4:c.48389T>C (TTN)	NP_003310.4:p.Val16130Ala
NM_133378.4:c.67880T>C (TTN)	NP_596869.4:p.Val22627Ala
NM_133432.3:c.48764T>C (TTN)	NP_597676.3:p.Val16255Ala
NM_133437.4:c.48965T>C (TTN)	NP_597681.4:p.Val16322Ala
NR_038271.1:n.447-752A>G (TTN-AS1)
NR_038272.1:n.2044-12024A>G (TTN-AS1)
XM_011511729.1:c.74681T>C (TTN)	XP_011510031.1:p.Val24894Ala
XM_011511730.1:c.48575T>C (TTN)	XP_011510032.1:p.Val16192Ala
XM_011511731.1:c.48434T>C (TTN)	XP_011510033.1:p.Val16145Ala
XM_017004819.1:c.74477T>C (TTN)	XP_016860308.1:p.Val24826Ala
XM_017004820.1:c.69875T>C (TTN)	XP_016860309.1:p.Val23292Ala
XM_017004821.1:c.69872T>C (TTN)	XP_016860310.1:p.Val23291Ala
XM_017004822.1:c.66914T>C (TTN)	XP_016860311.1:p.Val22305Ala
XM_017004823.1:c.48530T>C (TTN)	XP_016860312.1:p.Val16177Ala
XM_024453094.1:c.70025T>C (TTN)	XP_024308862.1:p.Val23342Ala
XM_024453095.1:c.70022T>C (TTN)	XP_024308863.1:p.Val23341Ala
XM_024453096.1:c.69455T>C (TTN)	XP_024308864.1:p.Val23152Ala
XM_024453097.1:c.66797T>C (TTN)	XP_024308865.1:p.Val22266Ala
XM_024453098.1:c.66716T>C (TTN)	XP_024308866.1:p.Val22239Ala
XM_024453099.1:c.48479T>C (TTN)	XP_024308867.1:p.Val16160Ala
XM_024453100.1:c.38333T>C (TTN)	XP_024308868.1:p.Val12778Ala