Canonical Allele Identifier: CA349465207

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179454140A>T (hg19) ; chr2:g.178589413A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589413A>T , CM000664.2:g.178589413A>T	GRCh38
NC_000002.11:g.179454140A>T , CM000664.1:g.179454140A>T	GRCh37
NC_000002.10:g.179162386A>T	NCBI36
NG_011618.3:g.246390T>A , LRG_391:g.246390T>A
NG_051363.1:g.71587A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54608T>A (TTN)	ENSP00000343764.6:p.Leu18203His
ENST00000342175.11:c.35693T>A (TTN)	ENSP00000340554.6:p.Leu11898His
ENST00000359218.10:c.35492T>A (TTN)	ENSP00000352154.5:p.Leu11831His
ENST00000342175.10:c.35693T>A (TTN)	ENSP00000340554.6:p.Leu11898His
ENST00000342992.10:c.54608T>A (TTN)	ENSP00000343764.6:p.Leu18203His
ENST00000359218.9:c.35492T>A (TTN)	ENSP00000352154.5:p.Leu11831His
ENST00000460472.6:c.35117T>A (TTN)	ENSP00000434586.1:p.Leu11706His
ENST00000589042.5:c.62312T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu20771His
ENST00000591111.5:c.57389T>A (TTN)	ENSP00000465570.1:p.Leu19130His
ENST00000615779.4:c.57389T>A (TTN)	ENSP00000483597.1:p.Leu19130His
NM_001256850.1:c.57389T>A (TTN)	NP_001243779.1:p.Leu19130His
NM_001267550.2:c.62312T>A (TTN) MANE Select	NP_001254479.2:p.Leu20771His
NM_003319.4:c.35117T>A (TTN)	NP_003310.4:p.Leu11706His
NM_133378.4:c.54608T>A (TTN)	NP_596869.4:p.Leu18203His
NM_133432.3:c.35492T>A (TTN)	NP_597676.3:p.Leu11831His
NM_133437.4:c.35693T>A (TTN)	NP_597681.4:p.Leu11898His
NR_038271.1:n.597-8183A>T (TTN-AS1)
NR_038272.1:n.3189-1726A>T (TTN-AS1)
XM_011511729.1:c.61409T>A (TTN)	XP_011510031.1:p.Leu20470His
XM_011511730.1:c.35303T>A (TTN)	XP_011510032.1:p.Leu11768His
XM_011511731.1:c.35162T>A (TTN)	XP_011510033.1:p.Leu11721His
XM_017004819.1:c.61205T>A (TTN)	XP_016860308.1:p.Leu20402His
XM_017004820.1:c.56603T>A (TTN)	XP_016860309.1:p.Leu18868His
XM_017004821.1:c.56600T>A (TTN)	XP_016860310.1:p.Leu18867His
XM_017004822.1:c.53642T>A (TTN)	XP_016860311.1:p.Leu17881His
XM_017004823.1:c.35258T>A (TTN)	XP_016860312.1:p.Leu11753His
XM_024453094.1:c.56753T>A (TTN)	XP_024308862.1:p.Leu18918His
XM_024453095.1:c.56750T>A (TTN)	XP_024308863.1:p.Leu18917His
XM_024453096.1:c.56183T>A (TTN)	XP_024308864.1:p.Leu18728His
XM_024453097.1:c.53525T>A (TTN)	XP_024308865.1:p.Leu17842His
XM_024453098.1:c.53444T>A (TTN)	XP_024308866.1:p.Leu17815His
XM_024453099.1:c.35207T>A (TTN)	XP_024308867.1:p.Leu11736His
XM_024453100.1:c.25061T>A (TTN)	XP_024308868.1:p.Leu8354His