Canonical Allele Identifier: CA349479965

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455731C>A (hg19) ; chr2:g.178591004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591004C>A , CM000664.2:g.178591004C>A	GRCh38
NC_000002.11:g.179455731C>A , CM000664.1:g.179455731C>A	GRCh37
NC_000002.10:g.179163977C>A	NCBI36
NG_011618.3:g.244799G>T , LRG_391:g.244799G>T
NG_051363.1:g.73178C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53017G>T (TTN)	ENSP00000343764.6:p.Glu17673Ter
ENST00000342175.11:c.34102G>T (TTN)	ENSP00000340554.6:p.Glu11368Ter
ENST00000359218.10:c.33901G>T (TTN)	ENSP00000352154.5:p.Glu11301Ter
ENST00000342175.10:c.34102G>T (TTN)	ENSP00000340554.6:p.Glu11368Ter
ENST00000342992.10:c.53017G>T (TTN)	ENSP00000343764.6:p.Glu17673Ter
ENST00000359218.9:c.33901G>T (TTN)	ENSP00000352154.5:p.Glu11301Ter
ENST00000460472.6:c.33526G>T (TTN)	ENSP00000434586.1:p.Glu11176Ter
ENST00000589042.5:c.60721G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu20241Ter
ENST00000591111.5:c.55798G>T (TTN)	ENSP00000465570.1:p.Glu18600Ter
ENST00000615779.4:c.55798G>T (TTN)	ENSP00000483597.1:p.Glu18600Ter
NM_001256850.1:c.55798G>T (TTN)	NP_001243779.1:p.Glu18600Ter
NM_001267550.2:c.60721G>T (TTN) MANE Select	NP_001254479.2:p.Glu20241Ter
NM_003319.4:c.33526G>T (TTN)	NP_003310.4:p.Glu11176Ter
NM_133378.4:c.53017G>T (TTN)	NP_596869.4:p.Glu17673Ter
NM_133432.3:c.33901G>T (TTN)	NP_597676.3:p.Glu11301Ter
NM_133437.4:c.34102G>T (TTN)	NP_597681.4:p.Glu11368Ter
NR_038271.1:n.597-6592C>A (TTN-AS1)
NR_038272.1:n.3189-135C>A (TTN-AS1)
XM_011511729.1:c.59818G>T (TTN)	XP_011510031.1:p.Glu19940Ter
XM_011511730.1:c.33712G>T (TTN)	XP_011510032.1:p.Glu11238Ter
XM_011511731.1:c.33571G>T (TTN)	XP_011510033.1:p.Glu11191Ter
XM_017004819.1:c.59614G>T (TTN)	XP_016860308.1:p.Glu19872Ter
XM_017004820.1:c.55012G>T (TTN)	XP_016860309.1:p.Glu18338Ter
XM_017004821.1:c.55009G>T (TTN)	XP_016860310.1:p.Glu18337Ter
XM_017004822.1:c.52051G>T (TTN)	XP_016860311.1:p.Glu17351Ter
XM_017004823.1:c.33667G>T (TTN)	XP_016860312.1:p.Glu11223Ter
XM_024453094.1:c.55162G>T (TTN)	XP_024308862.1:p.Glu18388Ter
XM_024453095.1:c.55159G>T (TTN)	XP_024308863.1:p.Glu18387Ter
XM_024453096.1:c.54592G>T (TTN)	XP_024308864.1:p.Glu18198Ter
XM_024453097.1:c.51934G>T (TTN)	XP_024308865.1:p.Glu17312Ter
XM_024453098.1:c.51853G>T (TTN)	XP_024308866.1:p.Glu17285Ter
XM_024453099.1:c.33616G>T (TTN)	XP_024308867.1:p.Glu11206Ter
XM_024453100.1:c.23470G>T (TTN)	XP_024308868.1:p.Glu7824Ter