Canonical Allele Identifier: CA349621807

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435276C>G (hg19) ; chr2:g.178570549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570549C>G , CM000664.2:g.178570549C>G	GRCh38
NC_000002.11:g.179435276C>G , CM000664.1:g.179435276C>G	GRCh37
NC_000002.10:g.179143522C>G	NCBI36
NG_011618.3:g.265254G>C , LRG_391:g.265254G>C
NG_051363.1:g.52723C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67879G>C (TTN)	ENSP00000343764.6:p.Val22627Leu
ENST00000342175.11:c.48964G>C (TTN)	ENSP00000340554.6:p.Val16322Leu
ENST00000359218.10:c.48763G>C (TTN)	ENSP00000352154.5:p.Val16255Leu
ENST00000342175.10:c.48964G>C (TTN)	ENSP00000340554.6:p.Val16322Leu
ENST00000342992.10:c.67879G>C (TTN)	ENSP00000343764.6:p.Val22627Leu
ENST00000359218.9:c.48763G>C (TTN)	ENSP00000352154.5:p.Val16255Leu
ENST00000460472.6:c.48388G>C (TTN)	ENSP00000434586.1:p.Val16130Leu
ENST00000589042.5:c.75583G>C (TTN) MANE Select	ENSP00000467141.1:p.Val25195Leu
ENST00000591111.5:c.70660G>C (TTN)	ENSP00000465570.1:p.Val23554Leu
ENST00000615779.4:c.70660G>C (TTN)	ENSP00000483597.1:p.Val23554Leu
NM_001256850.1:c.70660G>C (TTN)	NP_001243779.1:p.Val23554Leu
NM_001267550.2:c.75583G>C (TTN) MANE Select	NP_001254479.2:p.Val25195Leu
NM_003319.4:c.48388G>C (TTN)	NP_003310.4:p.Val16130Leu
NM_133378.4:c.67879G>C (TTN)	NP_596869.4:p.Val22627Leu
NM_133432.3:c.48763G>C (TTN)	NP_597676.3:p.Val16255Leu
NM_133437.4:c.48964G>C (TTN)	NP_597681.4:p.Val16322Leu
NR_038271.1:n.447-751C>G (TTN-AS1)
NR_038272.1:n.2044-12023C>G (TTN-AS1)
XM_011511729.1:c.74680G>C (TTN)	XP_011510031.1:p.Val24894Leu
XM_011511730.1:c.48574G>C (TTN)	XP_011510032.1:p.Val16192Leu
XM_011511731.1:c.48433G>C (TTN)	XP_011510033.1:p.Val16145Leu
XM_017004819.1:c.74476G>C (TTN)	XP_016860308.1:p.Val24826Leu
XM_017004820.1:c.69874G>C (TTN)	XP_016860309.1:p.Val23292Leu
XM_017004821.1:c.69871G>C (TTN)	XP_016860310.1:p.Val23291Leu
XM_017004822.1:c.66913G>C (TTN)	XP_016860311.1:p.Val22305Leu
XM_017004823.1:c.48529G>C (TTN)	XP_016860312.1:p.Val16177Leu
XM_024453094.1:c.70024G>C (TTN)	XP_024308862.1:p.Val23342Leu
XM_024453095.1:c.70021G>C (TTN)	XP_024308863.1:p.Val23341Leu
XM_024453096.1:c.69454G>C (TTN)	XP_024308864.1:p.Val23152Leu
XM_024453097.1:c.66796G>C (TTN)	XP_024308865.1:p.Val22266Leu
XM_024453098.1:c.66715G>C (TTN)	XP_024308866.1:p.Val22239Leu
XM_024453099.1:c.48478G>C (TTN)	XP_024308867.1:p.Val16160Leu
XM_024453100.1:c.38332G>C (TTN)	XP_024308868.1:p.Val12778Leu