Canonical Allele Identifier: CA349494253

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457519A>C (hg19) ; chr2:g.178592792A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592792A>C , CM000664.2:g.178592792A>C	GRCh38
NC_000002.11:g.179457519A>C , CM000664.1:g.179457519A>C	GRCh37
NC_000002.10:g.179165765A>C	NCBI36
NG_011618.3:g.243011T>G , LRG_391:g.243011T>G
NG_051363.1:g.74966A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51623T>G (TTN)	ENSP00000343764.6:p.Leu17208Arg
ENST00000342175.11:c.32708T>G (TTN)	ENSP00000340554.6:p.Leu10903Arg
ENST00000359218.10:c.32507T>G (TTN)	ENSP00000352154.5:p.Leu10836Arg
ENST00000342175.10:c.32708T>G (TTN)	ENSP00000340554.6:p.Leu10903Arg
ENST00000342992.10:c.51623T>G (TTN)	ENSP00000343764.6:p.Leu17208Arg
ENST00000359218.9:c.32507T>G (TTN)	ENSP00000352154.5:p.Leu10836Arg
ENST00000460472.6:c.32132T>G (TTN)	ENSP00000434586.1:p.Leu10711Arg
ENST00000589042.5:c.59327T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu19776Arg
ENST00000591111.5:c.54404T>G (TTN)	ENSP00000465570.1:p.Leu18135Arg
ENST00000615779.4:c.54404T>G (TTN)	ENSP00000483597.1:p.Leu18135Arg
NM_001256850.1:c.54404T>G (TTN)	NP_001243779.1:p.Leu18135Arg
NM_001267550.2:c.59327T>G (TTN) MANE Select	NP_001254479.2:p.Leu19776Arg
NM_003319.4:c.32132T>G (TTN)	NP_003310.4:p.Leu10711Arg
NM_133378.4:c.51623T>G (TTN)	NP_596869.4:p.Leu17208Arg
NM_133432.3:c.32507T>G (TTN)	NP_597676.3:p.Leu10836Arg
NM_133437.4:c.32708T>G (TTN)	NP_597681.4:p.Leu10903Arg
NR_038271.1:n.597-4804A>C (TTN-AS1)
NR_038272.1:n.3364+1478A>C (TTN-AS1)
XM_011511729.1:c.58424T>G (TTN)	XP_011510031.1:p.Leu19475Arg
XM_011511730.1:c.32318T>G (TTN)	XP_011510032.1:p.Leu10773Arg
XM_011511731.1:c.32177T>G (TTN)	XP_011510033.1:p.Leu10726Arg
XM_017004819.1:c.58220T>G (TTN)	XP_016860308.1:p.Leu19407Arg
XM_017004820.1:c.53618T>G (TTN)	XP_016860309.1:p.Leu17873Arg
XM_017004821.1:c.53615T>G (TTN)	XP_016860310.1:p.Leu17872Arg
XM_017004822.1:c.50657T>G (TTN)	XP_016860311.1:p.Leu16886Arg
XM_017004823.1:c.32273T>G (TTN)	XP_016860312.1:p.Leu10758Arg
XM_024453094.1:c.53768T>G (TTN)	XP_024308862.1:p.Leu17923Arg
XM_024453095.1:c.53765T>G (TTN)	XP_024308863.1:p.Leu17922Arg
XM_024453096.1:c.53198T>G (TTN)	XP_024308864.1:p.Leu17733Arg
XM_024453097.1:c.50540T>G (TTN)	XP_024308865.1:p.Leu16847Arg
XM_024453098.1:c.50459T>G (TTN)	XP_024308866.1:p.Leu16820Arg
XM_024453099.1:c.32222T>G (TTN)	XP_024308867.1:p.Leu10741Arg
XM_024453100.1:c.22076T>G (TTN)	XP_024308868.1:p.Leu7359Arg