Canonical Allele Identifier: CA349459608

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2438271
• ClinVar RCV Id: RCV003137436
• MyVariant Identifiers: chr2:g.179410189A>G (hg19) ; chr2:g.178545462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178545462A>G , CM000664.2:g.178545462A>G	GRCh38
NC_000002.11:g.179410189A>G , CM000664.1:g.179410189A>G	GRCh37
NC_000002.10:g.179118435A>G	NCBI36
NG_011618.3:g.290341T>C , LRG_391:g.290341T>C
NG_051363.1:g.27636A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87944T>C (TTN)	ENSP00000343764.6:p.Val29315Ala
ENST00000342175.11:c.69029T>C (TTN)	ENSP00000340554.6:p.Val23010Ala
ENST00000359218.10:c.68828T>C (TTN)	ENSP00000352154.5:p.Val22943Ala
ENST00000342175.10:c.69029T>C (TTN)	ENSP00000340554.6:p.Val23010Ala
ENST00000342992.10:c.87944T>C (TTN)	ENSP00000343764.6:p.Val29315Ala
ENST00000359218.9:c.68828T>C (TTN)	ENSP00000352154.5:p.Val22943Ala
ENST00000460472.6:c.68453T>C (TTN)	ENSP00000434586.1:p.Val22818Ala
ENST00000589042.5:c.95648T>C (TTN) MANE Select	ENSP00000467141.1:p.Val31883Ala
ENST00000591111.5:c.90725T>C (TTN)	ENSP00000465570.1:p.Val30242Ala
ENST00000615779.4:c.90725T>C (TTN)	ENSP00000483597.1:p.Val30242Ala
NM_001256850.1:c.90725T>C (TTN)	NP_001243779.1:p.Val30242Ala
NM_001267550.2:c.95648T>C (TTN) MANE Select	NP_001254479.2:p.Val31883Ala
NM_003319.4:c.68453T>C (TTN)	NP_003310.4:p.Val22818Ala
NM_133378.4:c.87944T>C (TTN)	NP_596869.4:p.Val29315Ala
NM_133432.3:c.68828T>C (TTN)	NP_597676.3:p.Val22943Ala
NM_133437.4:c.69029T>C (TTN)	NP_597681.4:p.Val23010Ala
NR_038271.1:n.446+21826A>G (TTN-AS1)
NR_038272.1:n.2043+3101A>G (TTN-AS1)
XM_011511729.1:c.94745T>C (TTN)	XP_011510031.1:p.Val31582Ala
XM_011511730.1:c.68639T>C (TTN)	XP_011510032.1:p.Val22880Ala
XM_011511731.1:c.68498T>C (TTN)	XP_011510033.1:p.Val22833Ala
XM_017004819.1:c.94541T>C (TTN)	XP_016860308.1:p.Val31514Ala
XM_017004820.1:c.89939T>C (TTN)	XP_016860309.1:p.Val29980Ala
XM_017004821.1:c.89936T>C (TTN)	XP_016860310.1:p.Val29979Ala
XM_017004822.1:c.86978T>C (TTN)	XP_016860311.1:p.Val28993Ala
XM_017004823.1:c.68594T>C (TTN)	XP_016860312.1:p.Val22865Ala
XM_024453094.1:c.90089T>C (TTN)	XP_024308862.1:p.Val30030Ala
XM_024453095.1:c.90086T>C (TTN)	XP_024308863.1:p.Val30029Ala
XM_024453096.1:c.89519T>C (TTN)	XP_024308864.1:p.Val29840Ala
XM_024453097.1:c.86861T>C (TTN)	XP_024308865.1:p.Val28954Ala
XM_024453098.1:c.86780T>C (TTN)	XP_024308866.1:p.Val28927Ala
XM_024453099.1:c.68543T>C (TTN)	XP_024308867.1:p.Val22848Ala
XM_024453100.1:c.58397T>C (TTN)	XP_024308868.1:p.Val19466Ala