Canonical Allele Identifier: CA349467004

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179454487T>A (hg19) ; chr2:g.178589760T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589760T>A , CM000664.2:g.178589760T>A	GRCh38
NC_000002.11:g.179454487T>A , CM000664.1:g.179454487T>A	GRCh37
NC_000002.10:g.179162733T>A	NCBI36
NG_011618.3:g.246043A>T , LRG_391:g.246043A>T
NG_051363.1:g.71934T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.54261A>T (TTN)	ENSP00000343764.6:p.Glu18087Asp
ENST00000342175.11:c.35346A>T (TTN)	ENSP00000340554.6:p.Glu11782Asp
ENST00000359218.10:c.35145A>T (TTN)	ENSP00000352154.5:p.Glu11715Asp
ENST00000342175.10:c.35346A>T (TTN)	ENSP00000340554.6:p.Glu11782Asp
ENST00000342992.10:c.54261A>T (TTN)	ENSP00000343764.6:p.Glu18087Asp
ENST00000359218.9:c.35145A>T (TTN)	ENSP00000352154.5:p.Glu11715Asp
ENST00000460472.6:c.34770A>T (TTN)	ENSP00000434586.1:p.Glu11590Asp
ENST00000589042.5:c.61965A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu20655Asp
ENST00000591111.5:c.57042A>T (TTN)	ENSP00000465570.1:p.Glu19014Asp
ENST00000615779.4:c.57042A>T (TTN)	ENSP00000483597.1:p.Glu19014Asp
NM_001256850.1:c.57042A>T (TTN)	NP_001243779.1:p.Glu19014Asp
NM_001267550.2:c.61965A>T (TTN) MANE Select	NP_001254479.2:p.Glu20655Asp
NM_003319.4:c.34770A>T (TTN)	NP_003310.4:p.Glu11590Asp
NM_133378.4:c.54261A>T (TTN)	NP_596869.4:p.Glu18087Asp
NM_133432.3:c.35145A>T (TTN)	NP_597676.3:p.Glu11715Asp
NM_133437.4:c.35346A>T (TTN)	NP_597681.4:p.Glu11782Asp
NR_038271.1:n.597-7836T>A (TTN-AS1)
NR_038272.1:n.3189-1379T>A (TTN-AS1)
XM_011511729.1:c.61062A>T (TTN)	XP_011510031.1:p.Glu20354Asp
XM_011511730.1:c.34956A>T (TTN)	XP_011510032.1:p.Glu11652Asp
XM_011511731.1:c.34815A>T (TTN)	XP_011510033.1:p.Glu11605Asp
XM_017004819.1:c.60858A>T (TTN)	XP_016860308.1:p.Glu20286Asp
XM_017004820.1:c.56256A>T (TTN)	XP_016860309.1:p.Glu18752Asp
XM_017004821.1:c.56253A>T (TTN)	XP_016860310.1:p.Glu18751Asp
XM_017004822.1:c.53295A>T (TTN)	XP_016860311.1:p.Glu17765Asp
XM_017004823.1:c.34911A>T (TTN)	XP_016860312.1:p.Glu11637Asp
XM_024453094.1:c.56406A>T (TTN)	XP_024308862.1:p.Glu18802Asp
XM_024453095.1:c.56403A>T (TTN)	XP_024308863.1:p.Glu18801Asp
XM_024453096.1:c.55836A>T (TTN)	XP_024308864.1:p.Glu18612Asp
XM_024453097.1:c.53178A>T (TTN)	XP_024308865.1:p.Glu17726Asp
XM_024453098.1:c.53097A>T (TTN)	XP_024308866.1:p.Glu17699Asp
XM_024453099.1:c.34860A>T (TTN)	XP_024308867.1:p.Glu11620Asp
XM_024453100.1:c.24714A>T (TTN)	XP_024308868.1:p.Glu8238Asp