Canonical Allele Identifier: CA349496369

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414584T>C (hg19) ; chr2:g.178549857T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549857T>C , CM000664.2:g.178549857T>C	GRCh38
NC_000002.11:g.179414584T>C , CM000664.1:g.179414584T>C	GRCh37
NC_000002.10:g.179122830T>C	NCBI36
NG_011618.3:g.285946A>G , LRG_391:g.285946A>G
NG_051363.1:g.32031T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84161A>G (TTN)	ENSP00000343764.6:p.Lys28054Arg
ENST00000342175.11:c.65246A>G (TTN)	ENSP00000340554.6:p.Lys21749Arg
ENST00000359218.10:c.65045A>G (TTN)	ENSP00000352154.5:p.Lys21682Arg
ENST00000342175.10:c.65246A>G (TTN)	ENSP00000340554.6:p.Lys21749Arg
ENST00000342992.10:c.84161A>G (TTN)	ENSP00000343764.6:p.Lys28054Arg
ENST00000359218.9:c.65045A>G (TTN)	ENSP00000352154.5:p.Lys21682Arg
ENST00000460472.6:c.64670A>G (TTN)	ENSP00000434586.1:p.Lys21557Arg
ENST00000589042.5:c.91865A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys30622Arg
ENST00000591111.5:c.86942A>G (TTN)	ENSP00000465570.1:p.Lys28981Arg
ENST00000615779.4:c.86942A>G (TTN)	ENSP00000483597.1:p.Lys28981Arg
NM_001256850.1:c.86942A>G (TTN)	NP_001243779.1:p.Lys28981Arg
NM_001267550.2:c.91865A>G (TTN) MANE Select	NP_001254479.2:p.Lys30622Arg
NM_003319.4:c.64670A>G (TTN)	NP_003310.4:p.Lys21557Arg
NM_133378.4:c.84161A>G (TTN)	NP_596869.4:p.Lys28054Arg
NM_133432.3:c.65045A>G (TTN)	NP_597676.3:p.Lys21682Arg
NM_133437.4:c.65246A>G (TTN)	NP_597681.4:p.Lys21749Arg
NR_038271.1:n.447-21443T>C (TTN-AS1)
NR_038272.1:n.2043+7496T>C (TTN-AS1)
XM_011511729.1:c.90962A>G (TTN)	XP_011510031.1:p.Lys30321Arg
XM_011511730.1:c.64856A>G (TTN)	XP_011510032.1:p.Lys21619Arg
XM_011511731.1:c.64715A>G (TTN)	XP_011510033.1:p.Lys21572Arg
XM_017004819.1:c.90758A>G (TTN)	XP_016860308.1:p.Lys30253Arg
XM_017004820.1:c.86156A>G (TTN)	XP_016860309.1:p.Lys28719Arg
XM_017004821.1:c.86153A>G (TTN)	XP_016860310.1:p.Lys28718Arg
XM_017004822.1:c.83195A>G (TTN)	XP_016860311.1:p.Lys27732Arg
XM_017004823.1:c.64811A>G (TTN)	XP_016860312.1:p.Lys21604Arg
XM_024453094.1:c.86306A>G (TTN)	XP_024308862.1:p.Lys28769Arg
XM_024453095.1:c.86303A>G (TTN)	XP_024308863.1:p.Lys28768Arg
XM_024453096.1:c.85736A>G (TTN)	XP_024308864.1:p.Lys28579Arg
XM_024453097.1:c.83078A>G (TTN)	XP_024308865.1:p.Lys27693Arg
XM_024453098.1:c.82997A>G (TTN)	XP_024308866.1:p.Lys27666Arg
XM_024453099.1:c.64760A>G (TTN)	XP_024308867.1:p.Lys21587Arg
XM_024453100.1:c.54614A>G (TTN)	XP_024308868.1:p.Lys18205Arg