Canonical Allele Identifier: CA10602822

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 279965
• ClinVar RCV Id: RCV000280520 ; RCV000584764
• dbSNP Id: rs886041287
• MyVariant Identifiers: chr2:g.179400322_179400323dupTG (hg19) ; chr2:g.179400321_179400322insTG (hg19) ; chr2:g.178535595_178535596dupTG (hg38) ; chr2:g.178535594_178535595insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535596_178535597dup , CM000664.2:g.178535596_178535597dup	GRCh38
NC_000002.11:g.179400323_179400324dup , CM000664.1:g.179400323_179400324dup	GRCh37
NC_000002.10:g.179108569_179108570dup	NCBI36
NG_011618.3:g.300207_300208dup , LRG_391:g.300207_300208dup
NG_051363.1:g.17770_17771dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.93315_93316dup (TTN)	ENSP00000343764.6:p.Arg31106ThrfsTer?
ENST00000342175.11:c.74400_74401dup (TTN)	ENSP00000340554.6:p.Arg24801ThrfsTer?
ENST00000359218.10:c.74199_74200dup (TTN)	ENSP00000352154.5:p.Arg24734ThrfsTer?
ENST00000342175.10:c.74400_74401dup (TTN)	ENSP00000340554.6:p.Arg24801ThrfsTer?
ENST00000342992.10:c.93315_93316dup (TTN)	ENSP00000343764.6:p.Arg31106ThrfsTer?
ENST00000359218.9:c.74199_74200dup (TTN)	ENSP00000352154.5:p.Arg24734ThrfsTer?
ENST00000460472.6:c.73824_73825dup (TTN)	ENSP00000434586.1:p.Arg24609ThrfsTer?
ENST00000589042.5:c.101019_101020dup (TTN) MANE Select	ENSP00000467141.1:p.Arg33674ThrfsTer?
ENST00000591111.5:c.96096_96097dup (TTN)	ENSP00000465570.1:p.Arg32033ThrfsTer?
ENST00000615779.4:c.96096_96097dup (TTN)	ENSP00000483597.1:p.Arg32033ThrfsTer?
NM_001256850.1:c.96096_96097dup (TTN)	NP_001243779.1:p.Arg32033ThrfsTer?
NM_001267550.2:c.101019_101020dup (TTN) MANE Select	NP_001254479.2:p.Arg33674ThrfsTer?
NM_003319.4:c.73824_73825dup (TTN)	NP_003310.4:p.Arg24609ThrfsTer?
NM_133378.4:c.93315_93316dup (TTN)	NP_596869.4:p.Arg31106ThrfsTer?
NM_133432.3:c.74199_74200dup (TTN)	NP_597676.3:p.Arg24734ThrfsTer?
NM_133437.4:c.74400_74401dup (TTN)	NP_597681.4:p.Arg24801ThrfsTer?
NR_038271.1:n.446+11960_446+11961dup (TTN-AS1)
NR_038272.1:n.220-136_220-135dup (TTN-AS1)
XM_011511729.1:c.100116_100117dup (TTN)	XP_011510031.1:p.Arg33373ThrfsTer?
XM_011511730.1:c.74010_74011dup (TTN)	XP_011510032.1:p.Arg24671ThrfsTer?
XM_011511731.1:c.73869_73870dup (TTN)	XP_011510033.1:p.Arg24624ThrfsTer?
XM_017004819.1:c.99912_99913dup (TTN)	XP_016860308.1:p.Arg33305ThrfsTer?
XM_017004820.1:c.95310_95311dup (TTN)	XP_016860309.1:p.Arg31771ThrfsTer?
XM_017004821.1:c.95307_95308dup (TTN)	XP_016860310.1:p.Arg31770ThrfsTer?
XM_017004822.1:c.92349_92350dup (TTN)	XP_016860311.1:p.Arg30784ThrfsTer?
XM_017004823.1:c.73965_73966dup (TTN)	XP_016860312.1:p.Arg24656ThrfsTer?
XM_024453094.1:c.95460_95461dup (TTN)	XP_024308862.1:p.Arg31821ThrfsTer?
XM_024453095.1:c.95457_95458dup (TTN)	XP_024308863.1:p.Arg31820ThrfsTer?
XM_024453096.1:c.94890_94891dup (TTN)	XP_024308864.1:p.Arg31631ThrfsTer?
XM_024453097.1:c.92232_92233dup (TTN)	XP_024308865.1:p.Arg30745ThrfsTer?
XM_024453098.1:c.92151_92152dup (TTN)	XP_024308866.1:p.Arg30718ThrfsTer?
XM_024453099.1:c.73914_73915dup (TTN)	XP_024308867.1:p.Arg24639ThrfsTer?
XM_024453100.1:c.63768_63769dup (TTN)	XP_024308868.1:p.Arg21257ThrfsTer?