Canonical Allele Identifier: CA353396

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 223381
• ClinVar RCV Id: RCV000209791 ; RCV003486768 ; RCV003765353
• dbSNP Id: rs869312115
• MyVariant Identifiers: chr2:g.179437750C>T (hg19) ; chr2:g.178573023C>T (hg38)
• PubMed: PMID:25589632

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573023C>T , CM000664.2:g.178573023C>T	GRCh38
NC_000002.11:g.179437750C>T , CM000664.1:g.179437750C>T	GRCh37
NC_000002.10:g.179145996C>T	NCBI36
NG_011618.3:g.262780G>A , LRG_391:g.262780G>A
NG_051363.1:g.55197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.65405G>A (TTN)	ENSP00000343764.6:p.Trp21802Ter
ENST00000342175.11:c.46490G>A (TTN)	ENSP00000340554.6:p.Trp15497Ter
ENST00000359218.10:c.46289G>A (TTN)	ENSP00000352154.5:p.Trp15430Ter
ENST00000342175.10:c.46490G>A (TTN)	ENSP00000340554.6:p.Trp15497Ter
ENST00000342992.10:c.65405G>A (TTN)	ENSP00000343764.6:p.Trp21802Ter
ENST00000359218.9:c.46289G>A (TTN)	ENSP00000352154.5:p.Trp15430Ter
ENST00000460472.6:c.45914G>A (TTN)	ENSP00000434586.1:p.Trp15305Ter
ENST00000589042.5:c.73109G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp24370Ter
ENST00000591111.5:c.68186G>A (TTN)	ENSP00000465570.1:p.Trp22729Ter
ENST00000615779.4:c.68186G>A (TTN)	ENSP00000483597.1:p.Trp22729Ter
NM_001256850.1:c.68186G>A (TTN)	NP_001243779.1:p.Trp22729Ter
NM_001267550.2:c.73109G>A (TTN) MANE Select	NP_001254479.2:p.Trp24370Ter
NM_003319.4:c.45914G>A (TTN)	NP_003310.4:p.Trp15305Ter
NM_133378.4:c.65405G>A (TTN)	NP_596869.4:p.Trp21802Ter
NM_133432.3:c.46289G>A (TTN)	NP_597676.3:p.Trp15430Ter
NM_133437.4:c.46490G>A (TTN)	NP_597681.4:p.Trp15497Ter
NR_038271.1:n.596+1574C>T (TTN-AS1)
NR_038272.1:n.2044-9549C>T (TTN-AS1)
XM_011511729.1:c.72206G>A (TTN)	XP_011510031.1:p.Trp24069Ter
XM_011511730.1:c.46100G>A (TTN)	XP_011510032.1:p.Trp15367Ter
XM_011511731.1:c.45959G>A (TTN)	XP_011510033.1:p.Trp15320Ter
XM_017004819.1:c.72002G>A (TTN)	XP_016860308.1:p.Trp24001Ter
XM_017004820.1:c.67400G>A (TTN)	XP_016860309.1:p.Trp22467Ter
XM_017004821.1:c.67397G>A (TTN)	XP_016860310.1:p.Trp22466Ter
XM_017004822.1:c.64439G>A (TTN)	XP_016860311.1:p.Trp21480Ter
XM_017004823.1:c.46055G>A (TTN)	XP_016860312.1:p.Trp15352Ter
XM_024453094.1:c.67550G>A (TTN)	XP_024308862.1:p.Trp22517Ter
XM_024453095.1:c.67547G>A (TTN)	XP_024308863.1:p.Trp22516Ter
XM_024453096.1:c.66980G>A (TTN)	XP_024308864.1:p.Trp22327Ter
XM_024453097.1:c.64322G>A (TTN)	XP_024308865.1:p.Trp21441Ter
XM_024453098.1:c.64241G>A (TTN)	XP_024308866.1:p.Trp21414Ter
XM_024453099.1:c.46004G>A (TTN)	XP_024308867.1:p.Trp15335Ter
XM_024453100.1:c.35858G>A (TTN)	XP_024308868.1:p.Trp11953Ter