Canonical Allele Identifier: CA349481122

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2690303
• ClinVar RCV Id: RCV003491719
• MyVariant Identifiers: chr2:g.179455832T>A (hg19) ; chr2:g.178591105T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591105T>A , CM000664.2:g.178591105T>A	GRCh38
NC_000002.11:g.179455832T>A , CM000664.1:g.179455832T>A	GRCh37
NC_000002.10:g.179164078T>A	NCBI36
NG_011618.3:g.244698A>T , LRG_391:g.244698A>T
NG_051363.1:g.73279T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52916A>T (TTN)	ENSP00000343764.6:p.Tyr17639Phe
ENST00000342175.11:c.34001A>T (TTN)	ENSP00000340554.6:p.Tyr11334Phe
ENST00000359218.10:c.33800A>T (TTN)	ENSP00000352154.5:p.Tyr11267Phe
ENST00000342175.10:c.34001A>T (TTN)	ENSP00000340554.6:p.Tyr11334Phe
ENST00000342992.10:c.52916A>T (TTN)	ENSP00000343764.6:p.Tyr17639Phe
ENST00000359218.9:c.33800A>T (TTN)	ENSP00000352154.5:p.Tyr11267Phe
ENST00000460472.6:c.33425A>T (TTN)	ENSP00000434586.1:p.Tyr11142Phe
ENST00000589042.5:c.60620A>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr20207Phe
ENST00000591111.5:c.55697A>T (TTN)	ENSP00000465570.1:p.Tyr18566Phe
ENST00000615779.4:c.55697A>T (TTN)	ENSP00000483597.1:p.Tyr18566Phe
NM_001256850.1:c.55697A>T (TTN)	NP_001243779.1:p.Tyr18566Phe
NM_001267550.2:c.60620A>T (TTN) MANE Select	NP_001254479.2:p.Tyr20207Phe
NM_003319.4:c.33425A>T (TTN)	NP_003310.4:p.Tyr11142Phe
NM_133378.4:c.52916A>T (TTN)	NP_596869.4:p.Tyr17639Phe
NM_133432.3:c.33800A>T (TTN)	NP_597676.3:p.Tyr11267Phe
NM_133437.4:c.34001A>T (TTN)	NP_597681.4:p.Tyr11334Phe
NR_038271.1:n.597-6491T>A (TTN-AS1)
NR_038272.1:n.3189-34T>A (TTN-AS1)
XM_011511729.1:c.59717A>T (TTN)	XP_011510031.1:p.Tyr19906Phe
XM_011511730.1:c.33611A>T (TTN)	XP_011510032.1:p.Tyr11204Phe
XM_011511731.1:c.33470A>T (TTN)	XP_011510033.1:p.Tyr11157Phe
XM_017004819.1:c.59513A>T (TTN)	XP_016860308.1:p.Tyr19838Phe
XM_017004820.1:c.54911A>T (TTN)	XP_016860309.1:p.Tyr18304Phe
XM_017004821.1:c.54908A>T (TTN)	XP_016860310.1:p.Tyr18303Phe
XM_017004822.1:c.51950A>T (TTN)	XP_016860311.1:p.Tyr17317Phe
XM_017004823.1:c.33566A>T (TTN)	XP_016860312.1:p.Tyr11189Phe
XM_024453094.1:c.55061A>T (TTN)	XP_024308862.1:p.Tyr18354Phe
XM_024453095.1:c.55058A>T (TTN)	XP_024308863.1:p.Tyr18353Phe
XM_024453096.1:c.54491A>T (TTN)	XP_024308864.1:p.Tyr18164Phe
XM_024453097.1:c.51833A>T (TTN)	XP_024308865.1:p.Tyr17278Phe
XM_024453098.1:c.51752A>T (TTN)	XP_024308866.1:p.Tyr17251Phe
XM_024453099.1:c.33515A>T (TTN)	XP_024308867.1:p.Tyr11172Phe
XM_024453100.1:c.23369A>T (TTN)	XP_024308868.1:p.Tyr7790Phe