Canonical Allele Identifier: CA349612800

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2437821
• ClinVar RCV Id: RCV003136987
• MyVariant Identifiers: chr2:g.179433818A>G (hg19) ; chr2:g.178569091A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569091A>G , CM000664.2:g.178569091A>G	GRCh38
NC_000002.11:g.179433818A>G , CM000664.1:g.179433818A>G	GRCh37
NC_000002.10:g.179142064A>G	NCBI36
NG_011618.3:g.266712T>C , LRG_391:g.266712T>C
NG_051363.1:g.51265A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69337T>C (TTN)	ENSP00000343764.6:p.Tyr23113His
ENST00000342175.11:c.50422T>C (TTN)	ENSP00000340554.6:p.Tyr16808His
ENST00000359218.10:c.50221T>C (TTN)	ENSP00000352154.5:p.Tyr16741His
ENST00000342175.10:c.50422T>C (TTN)	ENSP00000340554.6:p.Tyr16808His
ENST00000342992.10:c.69337T>C (TTN)	ENSP00000343764.6:p.Tyr23113His
ENST00000359218.9:c.50221T>C (TTN)	ENSP00000352154.5:p.Tyr16741His
ENST00000460472.6:c.49846T>C (TTN)	ENSP00000434586.1:p.Tyr16616His
ENST00000589042.5:c.77041T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr25681His
ENST00000591111.5:c.72118T>C (TTN)	ENSP00000465570.1:p.Tyr24040His
ENST00000615779.4:c.72118T>C (TTN)	ENSP00000483597.1:p.Tyr24040His
NM_001256850.1:c.72118T>C (TTN)	NP_001243779.1:p.Tyr24040His
NM_001267550.2:c.77041T>C (TTN) MANE Select	NP_001254479.2:p.Tyr25681His
NM_003319.4:c.49846T>C (TTN)	NP_003310.4:p.Tyr16616His
NM_133378.4:c.69337T>C (TTN)	NP_596869.4:p.Tyr23113His
NM_133432.3:c.50221T>C (TTN)	NP_597676.3:p.Tyr16741His
NM_133437.4:c.50422T>C (TTN)	NP_597681.4:p.Tyr16808His
NR_038271.1:n.447-2209A>G (TTN-AS1)
NR_038272.1:n.2044-13481A>G (TTN-AS1)
XM_011511729.1:c.76138T>C (TTN)	XP_011510031.1:p.Tyr25380His
XM_011511730.1:c.50032T>C (TTN)	XP_011510032.1:p.Tyr16678His
XM_011511731.1:c.49891T>C (TTN)	XP_011510033.1:p.Tyr16631His
XM_017004819.1:c.75934T>C (TTN)	XP_016860308.1:p.Tyr25312His
XM_017004820.1:c.71332T>C (TTN)	XP_016860309.1:p.Tyr23778His
XM_017004821.1:c.71329T>C (TTN)	XP_016860310.1:p.Tyr23777His
XM_017004822.1:c.68371T>C (TTN)	XP_016860311.1:p.Tyr22791His
XM_017004823.1:c.49987T>C (TTN)	XP_016860312.1:p.Tyr16663His
XM_024453094.1:c.71482T>C (TTN)	XP_024308862.1:p.Tyr23828His
XM_024453095.1:c.71479T>C (TTN)	XP_024308863.1:p.Tyr23827His
XM_024453096.1:c.70912T>C (TTN)	XP_024308864.1:p.Tyr23638His
XM_024453097.1:c.68254T>C (TTN)	XP_024308865.1:p.Tyr22752His
XM_024453098.1:c.68173T>C (TTN)	XP_024308866.1:p.Tyr22725His
XM_024453099.1:c.49936T>C (TTN)	XP_024308867.1:p.Tyr16646His
XM_024453100.1:c.39790T>C (TTN)	XP_024308868.1:p.Tyr13264His