Canonical Allele Identifier: CA349620914

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435171G>A (hg19) ; chr2:g.178570444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570444G>A , CM000664.2:g.178570444G>A	GRCh38
NC_000002.11:g.179435171G>A , CM000664.1:g.179435171G>A	GRCh37
NC_000002.10:g.179143417G>A	NCBI36
NG_011618.3:g.265359C>T , LRG_391:g.265359C>T
NG_051363.1:g.52618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67984C>T (TTN)	ENSP00000343764.6:p.Leu22662Phe
ENST00000342175.11:c.49069C>T (TTN)	ENSP00000340554.6:p.Leu16357Phe
ENST00000359218.10:c.48868C>T (TTN)	ENSP00000352154.5:p.Leu16290Phe
ENST00000342175.10:c.49069C>T (TTN)	ENSP00000340554.6:p.Leu16357Phe
ENST00000342992.10:c.67984C>T (TTN)	ENSP00000343764.6:p.Leu22662Phe
ENST00000359218.9:c.48868C>T (TTN)	ENSP00000352154.5:p.Leu16290Phe
ENST00000460472.6:c.48493C>T (TTN)	ENSP00000434586.1:p.Leu16165Phe
ENST00000589042.5:c.75688C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu25230Phe
ENST00000591111.5:c.70765C>T (TTN)	ENSP00000465570.1:p.Leu23589Phe
ENST00000615779.4:c.70765C>T (TTN)	ENSP00000483597.1:p.Leu23589Phe
NM_001256850.1:c.70765C>T (TTN)	NP_001243779.1:p.Leu23589Phe
NM_001267550.2:c.75688C>T (TTN) MANE Select	NP_001254479.2:p.Leu25230Phe
NM_003319.4:c.48493C>T (TTN)	NP_003310.4:p.Leu16165Phe
NM_133378.4:c.67984C>T (TTN)	NP_596869.4:p.Leu22662Phe
NM_133432.3:c.48868C>T (TTN)	NP_597676.3:p.Leu16290Phe
NM_133437.4:c.49069C>T (TTN)	NP_597681.4:p.Leu16357Phe
NR_038271.1:n.447-856G>A (TTN-AS1)
NR_038272.1:n.2044-12128G>A (TTN-AS1)
XM_011511729.1:c.74785C>T (TTN)	XP_011510031.1:p.Leu24929Phe
XM_011511730.1:c.48679C>T (TTN)	XP_011510032.1:p.Leu16227Phe
XM_011511731.1:c.48538C>T (TTN)	XP_011510033.1:p.Leu16180Phe
XM_017004819.1:c.74581C>T (TTN)	XP_016860308.1:p.Leu24861Phe
XM_017004820.1:c.69979C>T (TTN)	XP_016860309.1:p.Leu23327Phe
XM_017004821.1:c.69976C>T (TTN)	XP_016860310.1:p.Leu23326Phe
XM_017004822.1:c.67018C>T (TTN)	XP_016860311.1:p.Leu22340Phe
XM_017004823.1:c.48634C>T (TTN)	XP_016860312.1:p.Leu16212Phe
XM_024453094.1:c.70129C>T (TTN)	XP_024308862.1:p.Leu23377Phe
XM_024453095.1:c.70126C>T (TTN)	XP_024308863.1:p.Leu23376Phe
XM_024453096.1:c.69559C>T (TTN)	XP_024308864.1:p.Leu23187Phe
XM_024453097.1:c.66901C>T (TTN)	XP_024308865.1:p.Leu22301Phe
XM_024453098.1:c.66820C>T (TTN)	XP_024308866.1:p.Leu22274Phe
XM_024453099.1:c.48583C>T (TTN)	XP_024308867.1:p.Leu16195Phe
XM_024453100.1:c.38437C>T (TTN)	XP_024308868.1:p.Leu12813Phe