Canonical Allele Identifier: CA358832

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 132139
• ClinVar RCV Id: RCV000326796 ; RCV001383197
• dbSNP Id: rs869320744
• MyVariant Identifiers: chr2:g.179410591C>T (hg19) ; chr2:g.178545864C>T (hg38)
• PubMed: PMID:24575448

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178545864C>T , CM000664.2:g.178545864C>T	GRCh38
NC_000002.11:g.179410591C>T , CM000664.1:g.179410591C>T	GRCh37
NC_000002.10:g.179118837C>T	NCBI36
NG_011618.3:g.289939G>A , LRG_391:g.289939G>A
NG_051363.1:g.28038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87668G>A (TTN)	ENSP00000343764.6:p.Gly29223Asp
ENST00000342175.11:c.68753G>A (TTN)	ENSP00000340554.6:p.Gly22918Asp
ENST00000359218.10:c.68552G>A (TTN)	ENSP00000352154.5:p.Gly22851Asp
ENST00000342175.10:c.68753G>A (TTN)	ENSP00000340554.6:p.Gly22918Asp
ENST00000342992.10:c.87668G>A (TTN)	ENSP00000343764.6:p.Gly29223Asp
ENST00000359218.9:c.68552G>A (TTN)	ENSP00000352154.5:p.Gly22851Asp
ENST00000460472.6:c.68177G>A (TTN)	ENSP00000434586.1:p.Gly22726Asp
ENST00000589042.5:c.95372G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly31791Asp
ENST00000591111.5:c.90449G>A (TTN)	ENSP00000465570.1:p.Gly30150Asp
ENST00000615779.4:c.90449G>A (TTN)	ENSP00000483597.1:p.Gly30150Asp
NM_001256850.1:c.90449G>A (TTN)	NP_001243779.1:p.Gly30150Asp
NM_001267550.2:c.95372G>A (TTN) MANE Select	NP_001254479.2:p.Gly31791Asp
NM_003319.4:c.68177G>A (TTN)	NP_003310.4:p.Gly22726Asp
NM_133378.4:c.87668G>A (TTN)	NP_596869.4:p.Gly29223Asp
NM_133432.3:c.68552G>A (TTN)	NP_597676.3:p.Gly22851Asp
NM_133437.4:c.68753G>A (TTN)	NP_597681.4:p.Gly22918Asp
NR_038271.1:n.446+22228C>T (TTN-AS1)
NR_038272.1:n.2043+3503C>T (TTN-AS1)
XM_011511729.1:c.94469G>A (TTN)	XP_011510031.1:p.Gly31490Asp
XM_011511730.1:c.68363G>A (TTN)	XP_011510032.1:p.Gly22788Asp
XM_011511731.1:c.68222G>A (TTN)	XP_011510033.1:p.Gly22741Asp
XM_017004819.1:c.94265G>A (TTN)	XP_016860308.1:p.Gly31422Asp
XM_017004820.1:c.89663G>A (TTN)	XP_016860309.1:p.Gly29888Asp
XM_017004821.1:c.89660G>A (TTN)	XP_016860310.1:p.Gly29887Asp
XM_017004822.1:c.86702G>A (TTN)	XP_016860311.1:p.Gly28901Asp
XM_017004823.1:c.68318G>A (TTN)	XP_016860312.1:p.Gly22773Asp
XM_024453094.1:c.89813G>A (TTN)	XP_024308862.1:p.Gly29938Asp
XM_024453095.1:c.89810G>A (TTN)	XP_024308863.1:p.Gly29937Asp
XM_024453096.1:c.89243G>A (TTN)	XP_024308864.1:p.Gly29748Asp
XM_024453097.1:c.86585G>A (TTN)	XP_024308865.1:p.Gly28862Asp
XM_024453098.1:c.86504G>A (TTN)	XP_024308866.1:p.Gly28835Asp
XM_024453099.1:c.68267G>A (TTN)	XP_024308867.1:p.Gly22756Asp
XM_024453100.1:c.58121G>A (TTN)	XP_024308868.1:p.Gly19374Asp