Canonical Allele Identifier: CA353211

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 223325
• ClinVar RCV Id: RCV000209276
• dbSNP Id: rs869312082
• MyVariant Identifiers: chr2:g.179417304_179417305insA (hg19) ; chr2:g.178552577_178552578insA (hg38)
• PubMed: PMID:25589632

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552577_178552578insA , CM000664.2:g.178552577_178552578insA	GRCh38
NC_000002.11:g.179417304_179417305insA , CM000664.1:g.179417304_179417305insA	GRCh37
NC_000002.10:g.179125550_179125551insA	NCBI36
NG_011618.3:g.283225_283226insT , LRG_391:g.283225_283226insT
NG_051363.1:g.34751_34752insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82618_82619insT (TTN)	ENSP00000343764.6:p.Glu27540ValfsTer6
ENST00000342175.11:c.63703_63704insT (TTN)	ENSP00000340554.6:p.Glu21235ValfsTer6
ENST00000359218.10:c.63502_63503insT (TTN)	ENSP00000352154.5:p.Glu21168ValfsTer6
ENST00000342175.10:c.63703_63704insT (TTN)	ENSP00000340554.6:p.Glu21235ValfsTer6
ENST00000342992.10:c.82618_82619insT (TTN)	ENSP00000343764.6:p.Glu27540ValfsTer6
ENST00000359218.9:c.63502_63503insT (TTN)	ENSP00000352154.5:p.Glu21168ValfsTer6
ENST00000460472.6:c.63127_63128insT (TTN)	ENSP00000434586.1:p.Glu21043ValfsTer6
ENST00000589042.5:c.90322_90323insT (TTN) MANE Select	ENSP00000467141.1:p.Glu30108ValfsTer6
ENST00000591111.5:c.85399_85400insT (TTN)	ENSP00000465570.1:p.Glu28467ValfsTer6
ENST00000615779.4:c.85399_85400insT (TTN)	ENSP00000483597.1:p.Glu28467ValfsTer6
NM_001256850.1:c.85399_85400insT (TTN)	NP_001243779.1:p.Glu28467ValfsTer6
NM_001267550.2:c.90322_90323insT (TTN) MANE Select	NP_001254479.2:p.Glu30108ValfsTer6
NM_003319.4:c.63127_63128insT (TTN)	NP_003310.4:p.Glu21043ValfsTer6
NM_133378.4:c.82618_82619insT (TTN)	NP_596869.4:p.Glu27540ValfsTer6
NM_133432.3:c.63502_63503insT (TTN)	NP_597676.3:p.Glu21168ValfsTer6
NM_133437.4:c.63703_63704insT (TTN)	NP_597681.4:p.Glu21235ValfsTer6
NR_038271.1:n.447-18723_447-18722insA (TTN-AS1)
NR_038272.1:n.2043+10216_2043+10217insA (TTN-AS1)
XM_011511729.1:c.89419_89420insT (TTN)	XP_011510031.1:p.Glu29807ValfsTer6
XM_011511730.1:c.63313_63314insT (TTN)	XP_011510032.1:p.Glu21105ValfsTer6
XM_011511731.1:c.63172_63173insT (TTN)	XP_011510033.1:p.Glu21058ValfsTer6
XM_017004819.1:c.89215_89216insT (TTN)	XP_016860308.1:p.Glu29739ValfsTer6
XM_017004820.1:c.84613_84614insT (TTN)	XP_016860309.1:p.Glu28205ValfsTer6
XM_017004821.1:c.84610_84611insT (TTN)	XP_016860310.1:p.Glu28204ValfsTer6
XM_017004822.1:c.81652_81653insT (TTN)	XP_016860311.1:p.Glu27218ValfsTer6
XM_017004823.1:c.63268_63269insT (TTN)	XP_016860312.1:p.Glu21090ValfsTer6
XM_024453094.1:c.84763_84764insT (TTN)	XP_024308862.1:p.Glu28255ValfsTer6
XM_024453095.1:c.84760_84761insT (TTN)	XP_024308863.1:p.Glu28254ValfsTer6
XM_024453096.1:c.84193_84194insT (TTN)	XP_024308864.1:p.Glu28065ValfsTer6
XM_024453097.1:c.81535_81536insT (TTN)	XP_024308865.1:p.Glu27179ValfsTer6
XM_024453098.1:c.81454_81455insT (TTN)	XP_024308866.1:p.Glu27152ValfsTer6
XM_024453099.1:c.63217_63218insT (TTN)	XP_024308867.1:p.Glu21073ValfsTer6
XM_024453100.1:c.53071_53072insT (TTN)	XP_024308868.1:p.Glu17691ValfsTer6