Canonical Allele Identifier: CA349665223

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179440811G>C (hg19) ; chr2:g.178576084G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576084G>C , CM000664.2:g.178576084G>C	GRCh38
NC_000002.11:g.179440811G>C , CM000664.1:g.179440811G>C	GRCh37
NC_000002.10:g.179149057G>C	NCBI36
NG_011618.3:g.259719C>G , LRG_391:g.259719C>G
NG_051363.1:g.58258G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62344C>G (TTN)	ENSP00000343764.6:p.Leu20782Val
ENST00000342175.11:c.43429C>G (TTN)	ENSP00000340554.6:p.Leu14477Val
ENST00000359218.10:c.43228C>G (TTN)	ENSP00000352154.5:p.Leu14410Val
ENST00000342175.10:c.43429C>G (TTN)	ENSP00000340554.6:p.Leu14477Val
ENST00000342992.10:c.62344C>G (TTN)	ENSP00000343764.6:p.Leu20782Val
ENST00000359218.9:c.43228C>G (TTN)	ENSP00000352154.5:p.Leu14410Val
ENST00000460472.6:c.42853C>G (TTN)	ENSP00000434586.1:p.Leu14285Val
ENST00000589042.5:c.70048C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu23350Val
ENST00000591111.5:c.65125C>G (TTN)	ENSP00000465570.1:p.Leu21709Val
ENST00000615779.4:c.65125C>G (TTN)	ENSP00000483597.1:p.Leu21709Val
NM_001256850.1:c.65125C>G (TTN)	NP_001243779.1:p.Leu21709Val
NM_001267550.2:c.70048C>G (TTN) MANE Select	NP_001254479.2:p.Leu23350Val
NM_003319.4:c.42853C>G (TTN)	NP_003310.4:p.Leu14285Val
NM_133378.4:c.62344C>G (TTN)	NP_596869.4:p.Leu20782Val
NM_133432.3:c.43228C>G (TTN)	NP_597676.3:p.Leu14410Val
NM_133437.4:c.43429C>G (TTN)	NP_597681.4:p.Leu14477Val
NR_038271.1:n.596+4635G>C (TTN-AS1)
NR_038272.1:n.2044-6488G>C (TTN-AS1)
XM_011511729.1:c.69145C>G (TTN)	XP_011510031.1:p.Leu23049Val
XM_011511730.1:c.43039C>G (TTN)	XP_011510032.1:p.Leu14347Val
XM_011511731.1:c.42898C>G (TTN)	XP_011510033.1:p.Leu14300Val
XM_017004819.1:c.68941C>G (TTN)	XP_016860308.1:p.Leu22981Val
XM_017004820.1:c.64339C>G (TTN)	XP_016860309.1:p.Leu21447Val
XM_017004821.1:c.64336C>G (TTN)	XP_016860310.1:p.Leu21446Val
XM_017004822.1:c.61378C>G (TTN)	XP_016860311.1:p.Leu20460Val
XM_017004823.1:c.42994C>G (TTN)	XP_016860312.1:p.Leu14332Val
XM_024453094.1:c.64489C>G (TTN)	XP_024308862.1:p.Leu21497Val
XM_024453095.1:c.64486C>G (TTN)	XP_024308863.1:p.Leu21496Val
XM_024453096.1:c.63919C>G (TTN)	XP_024308864.1:p.Leu21307Val
XM_024453097.1:c.61261C>G (TTN)	XP_024308865.1:p.Leu20421Val
XM_024453098.1:c.61180C>G (TTN)	XP_024308866.1:p.Leu20394Val
XM_024453099.1:c.42943C>G (TTN)	XP_024308867.1:p.Leu14315Val
XM_024453100.1:c.32797C>G (TTN)	XP_024308868.1:p.Leu10933Val