Canonical Allele Identifier: CA349646345

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495655A>C (hg19) ; chr2:g.178630928A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630928A>C , CM000664.2:g.178630928A>C	GRCh38
NC_000002.11:g.179495655A>C , CM000664.1:g.179495655A>C	GRCh37
NC_000002.10:g.179203900A>C	NCBI36
NG_011618.3:g.204875T>G , LRG_391:g.204875T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36326T>G	ENSP00000343764.6:p.Leu12109Arg
ENST00000342175.11:c.17411T>G	ENSP00000340554.6:p.Leu5804Arg
ENST00000359218.10:c.17210T>G	ENSP00000352154.5:p.Leu5737Arg
ENST00000342175.10:c.17411T>G	ENSP00000340554.6:p.Leu5804Arg
ENST00000342992.10:c.36326T>G	ENSP00000343764.6:p.Leu12109Arg
ENST00000359218.9:c.17210T>G	ENSP00000352154.5:p.Leu5737Arg
ENST00000460472.6:c.16835T>G	ENSP00000434586.1:p.Leu5612Arg
ENST00000589042.5:c.44030T>G MANE Select	ENSP00000467141.1:p.Leu14677Arg
ENST00000591111.5:c.39107T>G	ENSP00000465570.1:p.Leu13036Arg
ENST00000615779.4:c.39107T>G	ENSP00000483597.1:p.Leu13036Arg
NM_001256850.1:c.39107T>G	NP_001243779.1:p.Leu13036Arg
NM_001267550.2:c.44030T>G MANE Select	NP_001254479.2:p.Leu14677Arg
NM_003319.4:c.16835T>G	NP_003310.4:p.Leu5612Arg
NM_133378.4:c.36326T>G	NP_596869.4:p.Leu12109Arg
NM_133432.3:c.17210T>G	NP_597676.3:p.Leu5737Arg
NM_133437.4:c.17411T>G	NP_597681.4:p.Leu5804Arg
XM_011511729.1:c.43127T>G	XP_011510031.1:p.Leu14376Arg
XM_011511730.1:c.17021T>G	XP_011510032.1:p.Leu5674Arg
XM_011511731.1:c.16880T>G	XP_011510033.1:p.Leu5627Arg
XM_017004819.1:c.42923T>G	XP_016860308.1:p.Leu14308Arg
XM_017004820.1:c.38321T>G	XP_016860309.1:p.Leu12774Arg
XM_017004821.1:c.38318T>G	XP_016860310.1:p.Leu12773Arg
XM_017004822.1:c.35360T>G	XP_016860311.1:p.Leu11787Arg
XM_017004823.1:c.16976T>G	XP_016860312.1:p.Leu5659Arg
XM_024453094.1:c.38471T>G	XP_024308862.1:p.Leu12824Arg
XM_024453095.1:c.38468T>G	XP_024308863.1:p.Leu12823Arg
XM_024453096.1:c.37901T>G	XP_024308864.1:p.Leu12634Arg
XM_024453097.1:c.35243T>G	XP_024308865.1:p.Leu11748Arg
XM_024453098.1:c.35162T>G	XP_024308866.1:p.Leu11721Arg
XM_024453099.1:c.16925T>G	XP_024308867.1:p.Leu5642Arg
XM_024453100.1:c.6779T>G	XP_024308868.1:p.Leu2260Arg