Canonical Allele Identifier: CA349610666

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433457T>C (hg19) ; chr2:g.178568730T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568730T>C , CM000664.2:g.178568730T>C	GRCh38
NC_000002.11:g.179433457T>C , CM000664.1:g.179433457T>C	GRCh37
NC_000002.10:g.179141703T>C	NCBI36
NG_011618.3:g.267073A>G , LRG_391:g.267073A>G
NG_051363.1:g.50904T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69698A>G (TTN)	ENSP00000343764.6:p.Lys23233Arg
ENST00000342175.11:c.50783A>G (TTN)	ENSP00000340554.6:p.Lys16928Arg
ENST00000359218.10:c.50582A>G (TTN)	ENSP00000352154.5:p.Lys16861Arg
ENST00000342175.10:c.50783A>G (TTN)	ENSP00000340554.6:p.Lys16928Arg
ENST00000342992.10:c.69698A>G (TTN)	ENSP00000343764.6:p.Lys23233Arg
ENST00000359218.9:c.50582A>G (TTN)	ENSP00000352154.5:p.Lys16861Arg
ENST00000460472.6:c.50207A>G (TTN)	ENSP00000434586.1:p.Lys16736Arg
ENST00000589042.5:c.77402A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys25801Arg
ENST00000591111.5:c.72479A>G (TTN)	ENSP00000465570.1:p.Lys24160Arg
ENST00000615779.4:c.72479A>G (TTN)	ENSP00000483597.1:p.Lys24160Arg
NM_001256850.1:c.72479A>G (TTN)	NP_001243779.1:p.Lys24160Arg
NM_001267550.2:c.77402A>G (TTN) MANE Select	NP_001254479.2:p.Lys25801Arg
NM_003319.4:c.50207A>G (TTN)	NP_003310.4:p.Lys16736Arg
NM_133378.4:c.69698A>G (TTN)	NP_596869.4:p.Lys23233Arg
NM_133432.3:c.50582A>G (TTN)	NP_597676.3:p.Lys16861Arg
NM_133437.4:c.50783A>G (TTN)	NP_597681.4:p.Lys16928Arg
NR_038271.1:n.447-2570T>C (TTN-AS1)
NR_038272.1:n.2044-13842T>C (TTN-AS1)
XM_011511729.1:c.76499A>G (TTN)	XP_011510031.1:p.Lys25500Arg
XM_011511730.1:c.50393A>G (TTN)	XP_011510032.1:p.Lys16798Arg
XM_011511731.1:c.50252A>G (TTN)	XP_011510033.1:p.Lys16751Arg
XM_017004819.1:c.76295A>G (TTN)	XP_016860308.1:p.Lys25432Arg
XM_017004820.1:c.71693A>G (TTN)	XP_016860309.1:p.Lys23898Arg
XM_017004821.1:c.71690A>G (TTN)	XP_016860310.1:p.Lys23897Arg
XM_017004822.1:c.68732A>G (TTN)	XP_016860311.1:p.Lys22911Arg
XM_017004823.1:c.50348A>G (TTN)	XP_016860312.1:p.Lys16783Arg
XM_024453094.1:c.71843A>G (TTN)	XP_024308862.1:p.Lys23948Arg
XM_024453095.1:c.71840A>G (TTN)	XP_024308863.1:p.Lys23947Arg
XM_024453096.1:c.71273A>G (TTN)	XP_024308864.1:p.Lys23758Arg
XM_024453097.1:c.68615A>G (TTN)	XP_024308865.1:p.Lys22872Arg
XM_024453098.1:c.68534A>G (TTN)	XP_024308866.1:p.Lys22845Arg
XM_024453099.1:c.50297A>G (TTN)	XP_024308867.1:p.Lys16766Arg
XM_024453100.1:c.40151A>G (TTN)	XP_024308868.1:p.Lys13384Arg