Canonical Allele Identifier: CA349612792

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433816A>C (hg19) ; chr2:g.178569089A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569089A>C , CM000664.2:g.178569089A>C	GRCh38
NC_000002.11:g.179433816A>C , CM000664.1:g.179433816A>C	GRCh37
NC_000002.10:g.179142062A>C	NCBI36
NG_011618.3:g.266714T>G , LRG_391:g.266714T>G
NG_051363.1:g.51263A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69339T>G (TTN)	ENSP00000343764.6:p.Tyr23113Ter
ENST00000342175.11:c.50424T>G (TTN)	ENSP00000340554.6:p.Tyr16808Ter
ENST00000359218.10:c.50223T>G (TTN)	ENSP00000352154.5:p.Tyr16741Ter
ENST00000342175.10:c.50424T>G (TTN)	ENSP00000340554.6:p.Tyr16808Ter
ENST00000342992.10:c.69339T>G (TTN)	ENSP00000343764.6:p.Tyr23113Ter
ENST00000359218.9:c.50223T>G (TTN)	ENSP00000352154.5:p.Tyr16741Ter
ENST00000460472.6:c.49848T>G (TTN)	ENSP00000434586.1:p.Tyr16616Ter
ENST00000589042.5:c.77043T>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr25681Ter
ENST00000591111.5:c.72120T>G (TTN)	ENSP00000465570.1:p.Tyr24040Ter
ENST00000615779.4:c.72120T>G (TTN)	ENSP00000483597.1:p.Tyr24040Ter
NM_001256850.1:c.72120T>G (TTN)	NP_001243779.1:p.Tyr24040Ter
NM_001267550.2:c.77043T>G (TTN) MANE Select	NP_001254479.2:p.Tyr25681Ter
NM_003319.4:c.49848T>G (TTN)	NP_003310.4:p.Tyr16616Ter
NM_133378.4:c.69339T>G (TTN)	NP_596869.4:p.Tyr23113Ter
NM_133432.3:c.50223T>G (TTN)	NP_597676.3:p.Tyr16741Ter
NM_133437.4:c.50424T>G (TTN)	NP_597681.4:p.Tyr16808Ter
NR_038271.1:n.447-2211A>C (TTN-AS1)
NR_038272.1:n.2044-13483A>C (TTN-AS1)
XM_011511729.1:c.76140T>G (TTN)	XP_011510031.1:p.Tyr25380Ter
XM_011511730.1:c.50034T>G (TTN)	XP_011510032.1:p.Tyr16678Ter
XM_011511731.1:c.49893T>G (TTN)	XP_011510033.1:p.Tyr16631Ter
XM_017004819.1:c.75936T>G (TTN)	XP_016860308.1:p.Tyr25312Ter
XM_017004820.1:c.71334T>G (TTN)	XP_016860309.1:p.Tyr23778Ter
XM_017004821.1:c.71331T>G (TTN)	XP_016860310.1:p.Tyr23777Ter
XM_017004822.1:c.68373T>G (TTN)	XP_016860311.1:p.Tyr22791Ter
XM_017004823.1:c.49989T>G (TTN)	XP_016860312.1:p.Tyr16663Ter
XM_024453094.1:c.71484T>G (TTN)	XP_024308862.1:p.Tyr23828Ter
XM_024453095.1:c.71481T>G (TTN)	XP_024308863.1:p.Tyr23827Ter
XM_024453096.1:c.70914T>G (TTN)	XP_024308864.1:p.Tyr23638Ter
XM_024453097.1:c.68256T>G (TTN)	XP_024308865.1:p.Tyr22752Ter
XM_024453098.1:c.68175T>G (TTN)	XP_024308866.1:p.Tyr22725Ter
XM_024453099.1:c.49938T>G (TTN)	XP_024308867.1:p.Tyr16646Ter
XM_024453100.1:c.39792T>G (TTN)	XP_024308868.1:p.Tyr13264Ter