Canonical Allele Identifier: CA349670794

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466654
• ClinVar RCV Id: RCV001379435
• dbSNP Id: rs1553617378
• MyVariant Identifiers: chr2:g.179442119C>T (hg19) ; chr2:g.178577392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178577392C>T , CM000664.2:g.178577392C>T	GRCh38
NC_000002.11:g.179442119C>T , CM000664.1:g.179442119C>T	GRCh37
NC_000002.10:g.179150365C>T	NCBI36
NG_011618.3:g.258411G>A , LRG_391:g.258411G>A
NG_051363.1:g.59566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.61239G>A (TTN)	ENSP00000343764.6:p.Trp20413Ter
ENST00000342175.11:c.42324G>A (TTN)	ENSP00000340554.6:p.Trp14108Ter
ENST00000359218.10:c.42123G>A (TTN)	ENSP00000352154.5:p.Trp14041Ter
ENST00000342175.10:c.42324G>A (TTN)	ENSP00000340554.6:p.Trp14108Ter
ENST00000342992.10:c.61239G>A (TTN)	ENSP00000343764.6:p.Trp20413Ter
ENST00000359218.9:c.42123G>A (TTN)	ENSP00000352154.5:p.Trp14041Ter
ENST00000460472.6:c.41748G>A (TTN)	ENSP00000434586.1:p.Trp13916Ter
ENST00000589042.5:c.68943G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp22981Ter
ENST00000591111.5:c.64020G>A (TTN)	ENSP00000465570.1:p.Trp21340Ter
ENST00000615779.4:c.64020G>A (TTN)	ENSP00000483597.1:p.Trp21340Ter
NM_001256850.1:c.64020G>A (TTN)	NP_001243779.1:p.Trp21340Ter
NM_001267550.2:c.68943G>A (TTN) MANE Select	NP_001254479.2:p.Trp22981Ter
NM_003319.4:c.41748G>A (TTN)	NP_003310.4:p.Trp13916Ter
NM_133378.4:c.61239G>A (TTN)	NP_596869.4:p.Trp20413Ter
NM_133432.3:c.42123G>A (TTN)	NP_597676.3:p.Trp14041Ter
NM_133437.4:c.42324G>A (TTN)	NP_597681.4:p.Trp14108Ter
NR_038271.1:n.596+5943C>T (TTN-AS1)
NR_038272.1:n.2044-5180C>T (TTN-AS1)
XM_011511729.1:c.68040G>A (TTN)	XP_011510031.1:p.Trp22680Ter
XM_011511730.1:c.41934G>A (TTN)	XP_011510032.1:p.Trp13978Ter
XM_011511731.1:c.41793G>A (TTN)	XP_011510033.1:p.Trp13931Ter
XM_017004819.1:c.67836G>A (TTN)	XP_016860308.1:p.Trp22612Ter
XM_017004820.1:c.63234G>A (TTN)	XP_016860309.1:p.Trp21078Ter
XM_017004821.1:c.63231G>A (TTN)	XP_016860310.1:p.Trp21077Ter
XM_017004822.1:c.60273G>A (TTN)	XP_016860311.1:p.Trp20091Ter
XM_017004823.1:c.41889G>A (TTN)	XP_016860312.1:p.Trp13963Ter
XM_024453094.1:c.63384G>A (TTN)	XP_024308862.1:p.Trp21128Ter
XM_024453095.1:c.63381G>A (TTN)	XP_024308863.1:p.Trp21127Ter
XM_024453096.1:c.62814G>A (TTN)	XP_024308864.1:p.Trp20938Ter
XM_024453097.1:c.60156G>A (TTN)	XP_024308865.1:p.Trp20052Ter
XM_024453098.1:c.60075G>A (TTN)	XP_024308866.1:p.Trp20025Ter
XM_024453099.1:c.41838G>A (TTN)	XP_024308867.1:p.Trp13946Ter
XM_024453100.1:c.31692G>A (TTN)	XP_024308868.1:p.Trp10564Ter