Canonical Allele Identifier: CA349489114

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 945546
• ClinVar RCV Id: RCV001216208
• dbSNP Id: rs1698169393
• MyVariant Identifiers: chr2:g.179413391T>A (hg19) ; chr2:g.178548664T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548664T>A , CM000664.2:g.178548664T>A	GRCh38
NC_000002.11:g.179413391T>A , CM000664.1:g.179413391T>A	GRCh37
NC_000002.10:g.179121637T>A	NCBI36
NG_011618.3:g.287139A>T , LRG_391:g.287139A>T
NG_051363.1:g.30838T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85258A>T (TTN)	ENSP00000343764.6:p.Arg28420Ter
ENST00000342175.11:c.66343A>T (TTN)	ENSP00000340554.6:p.Arg22115Ter
ENST00000359218.10:c.66142A>T (TTN)	ENSP00000352154.5:p.Arg22048Ter
ENST00000342175.10:c.66343A>T (TTN)	ENSP00000340554.6:p.Arg22115Ter
ENST00000342992.10:c.85258A>T (TTN)	ENSP00000343764.6:p.Arg28420Ter
ENST00000359218.9:c.66142A>T (TTN)	ENSP00000352154.5:p.Arg22048Ter
ENST00000460472.6:c.65767A>T (TTN)	ENSP00000434586.1:p.Arg21923Ter
ENST00000589042.5:c.92962A>T (TTN) MANE Select	ENSP00000467141.1:p.Arg30988Ter
ENST00000591111.5:c.88039A>T (TTN)	ENSP00000465570.1:p.Arg29347Ter
ENST00000615779.4:c.88039A>T (TTN)	ENSP00000483597.1:p.Arg29347Ter
NM_001256850.1:c.88039A>T (TTN)	NP_001243779.1:p.Arg29347Ter
NM_001267550.2:c.92962A>T (TTN) MANE Select	NP_001254479.2:p.Arg30988Ter
NM_003319.4:c.65767A>T (TTN)	NP_003310.4:p.Arg21923Ter
NM_133378.4:c.85258A>T (TTN)	NP_596869.4:p.Arg28420Ter
NM_133432.3:c.66142A>T (TTN)	NP_597676.3:p.Arg22048Ter
NM_133437.4:c.66343A>T (TTN)	NP_597681.4:p.Arg22115Ter
NR_038271.1:n.447-22636T>A (TTN-AS1)
NR_038272.1:n.2043+6303T>A (TTN-AS1)
XM_011511729.1:c.92059A>T (TTN)	XP_011510031.1:p.Arg30687Ter
XM_011511730.1:c.65953A>T (TTN)	XP_011510032.1:p.Arg21985Ter
XM_011511731.1:c.65812A>T (TTN)	XP_011510033.1:p.Arg21938Ter
XM_017004819.1:c.91855A>T (TTN)	XP_016860308.1:p.Arg30619Ter
XM_017004820.1:c.87253A>T (TTN)	XP_016860309.1:p.Arg29085Ter
XM_017004821.1:c.87250A>T (TTN)	XP_016860310.1:p.Arg29084Ter
XM_017004822.1:c.84292A>T (TTN)	XP_016860311.1:p.Arg28098Ter
XM_017004823.1:c.65908A>T (TTN)	XP_016860312.1:p.Arg21970Ter
XM_024453094.1:c.87403A>T (TTN)	XP_024308862.1:p.Arg29135Ter
XM_024453095.1:c.87400A>T (TTN)	XP_024308863.1:p.Arg29134Ter
XM_024453096.1:c.86833A>T (TTN)	XP_024308864.1:p.Arg28945Ter
XM_024453097.1:c.84175A>T (TTN)	XP_024308865.1:p.Arg28059Ter
XM_024453098.1:c.84094A>T (TTN)	XP_024308866.1:p.Arg28032Ter
XM_024453099.1:c.65857A>T (TTN)	XP_024308867.1:p.Arg21953Ter
XM_024453100.1:c.55711A>T (TTN)	XP_024308868.1:p.Arg18571Ter