Canonical Allele Identifier: CA349460517

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179410298G>T (hg19) ; chr2:g.178545571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178545571G>T , CM000664.2:g.178545571G>T	GRCh38
NC_000002.11:g.179410298G>T , CM000664.1:g.179410298G>T	GRCh37
NC_000002.10:g.179118544G>T	NCBI36
NG_011618.3:g.290232C>A , LRG_391:g.290232C>A
NG_051363.1:g.27745G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87835C>A (TTN)	ENSP00000343764.6:p.Arg29279Ser
ENST00000342175.11:c.68920C>A (TTN)	ENSP00000340554.6:p.Arg22974Ser
ENST00000359218.10:c.68719C>A (TTN)	ENSP00000352154.5:p.Arg22907Ser
ENST00000342175.10:c.68920C>A (TTN)	ENSP00000340554.6:p.Arg22974Ser
ENST00000342992.10:c.87835C>A (TTN)	ENSP00000343764.6:p.Arg29279Ser
ENST00000359218.9:c.68719C>A (TTN)	ENSP00000352154.5:p.Arg22907Ser
ENST00000460472.6:c.68344C>A (TTN)	ENSP00000434586.1:p.Arg22782Ser
ENST00000589042.5:c.95539C>A (TTN) MANE Select	ENSP00000467141.1:p.Arg31847Ser
ENST00000591111.5:c.90616C>A (TTN)	ENSP00000465570.1:p.Arg30206Ser
ENST00000615779.4:c.90616C>A (TTN)	ENSP00000483597.1:p.Arg30206Ser
NM_001256850.1:c.90616C>A (TTN)	NP_001243779.1:p.Arg30206Ser
NM_001267550.2:c.95539C>A (TTN) MANE Select	NP_001254479.2:p.Arg31847Ser
NM_003319.4:c.68344C>A (TTN)	NP_003310.4:p.Arg22782Ser
NM_133378.4:c.87835C>A (TTN)	NP_596869.4:p.Arg29279Ser
NM_133432.3:c.68719C>A (TTN)	NP_597676.3:p.Arg22907Ser
NM_133437.4:c.68920C>A (TTN)	NP_597681.4:p.Arg22974Ser
NR_038271.1:n.446+21935G>T (TTN-AS1)
NR_038272.1:n.2043+3210G>T (TTN-AS1)
XM_011511729.1:c.94636C>A (TTN)	XP_011510031.1:p.Arg31546Ser
XM_011511730.1:c.68530C>A (TTN)	XP_011510032.1:p.Arg22844Ser
XM_011511731.1:c.68389C>A (TTN)	XP_011510033.1:p.Arg22797Ser
XM_017004819.1:c.94432C>A (TTN)	XP_016860308.1:p.Arg31478Ser
XM_017004820.1:c.89830C>A (TTN)	XP_016860309.1:p.Arg29944Ser
XM_017004821.1:c.89827C>A (TTN)	XP_016860310.1:p.Arg29943Ser
XM_017004822.1:c.86869C>A (TTN)	XP_016860311.1:p.Arg28957Ser
XM_017004823.1:c.68485C>A (TTN)	XP_016860312.1:p.Arg22829Ser
XM_024453094.1:c.89980C>A (TTN)	XP_024308862.1:p.Arg29994Ser
XM_024453095.1:c.89977C>A (TTN)	XP_024308863.1:p.Arg29993Ser
XM_024453096.1:c.89410C>A (TTN)	XP_024308864.1:p.Arg29804Ser
XM_024453097.1:c.86752C>A (TTN)	XP_024308865.1:p.Arg28918Ser
XM_024453098.1:c.86671C>A (TTN)	XP_024308866.1:p.Arg28891Ser
XM_024453099.1:c.68434C>A (TTN)	XP_024308867.1:p.Arg22812Ser
XM_024453100.1:c.58288C>A (TTN)	XP_024308868.1:p.Arg19430Ser