Canonical Allele Identifier: CA349601422

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432137T>A (hg19) ; chr2:g.178567410T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567410T>A , CM000664.2:g.178567410T>A	GRCh38
NC_000002.11:g.179432137T>A , CM000664.1:g.179432137T>A	GRCh37
NC_000002.10:g.179140383T>A	NCBI36
NG_011618.3:g.268393A>T , LRG_391:g.268393A>T
NG_051363.1:g.49584T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71018A>T (TTN)	ENSP00000343764.6:p.Glu23673Val
ENST00000342175.11:c.52103A>T (TTN)	ENSP00000340554.6:p.Glu17368Val
ENST00000359218.10:c.51902A>T (TTN)	ENSP00000352154.5:p.Glu17301Val
ENST00000342175.10:c.52103A>T (TTN)	ENSP00000340554.6:p.Glu17368Val
ENST00000342992.10:c.71018A>T (TTN)	ENSP00000343764.6:p.Glu23673Val
ENST00000359218.9:c.51902A>T (TTN)	ENSP00000352154.5:p.Glu17301Val
ENST00000460472.6:c.51527A>T (TTN)	ENSP00000434586.1:p.Glu17176Val
ENST00000589042.5:c.78722A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu26241Val
ENST00000591111.5:c.73799A>T (TTN)	ENSP00000465570.1:p.Glu24600Val
ENST00000615779.4:c.73799A>T (TTN)	ENSP00000483597.1:p.Glu24600Val
NM_001256850.1:c.73799A>T (TTN)	NP_001243779.1:p.Glu24600Val
NM_001267550.2:c.78722A>T (TTN) MANE Select	NP_001254479.2:p.Glu26241Val
NM_003319.4:c.51527A>T (TTN)	NP_003310.4:p.Glu17176Val
NM_133378.4:c.71018A>T (TTN)	NP_596869.4:p.Glu23673Val
NM_133432.3:c.51902A>T (TTN)	NP_597676.3:p.Glu17301Val
NM_133437.4:c.52103A>T (TTN)	NP_597681.4:p.Glu17368Val
NR_038271.1:n.447-3890T>A (TTN-AS1)
NR_038272.1:n.2044-15162T>A (TTN-AS1)
XM_011511729.1:c.77819A>T (TTN)	XP_011510031.1:p.Glu25940Val
XM_011511730.1:c.51713A>T (TTN)	XP_011510032.1:p.Glu17238Val
XM_011511731.1:c.51572A>T (TTN)	XP_011510033.1:p.Glu17191Val
XM_017004819.1:c.77615A>T (TTN)	XP_016860308.1:p.Glu25872Val
XM_017004820.1:c.73013A>T (TTN)	XP_016860309.1:p.Glu24338Val
XM_017004821.1:c.73010A>T (TTN)	XP_016860310.1:p.Glu24337Val
XM_017004822.1:c.70052A>T (TTN)	XP_016860311.1:p.Glu23351Val
XM_017004823.1:c.51668A>T (TTN)	XP_016860312.1:p.Glu17223Val
XM_024453094.1:c.73163A>T (TTN)	XP_024308862.1:p.Glu24388Val
XM_024453095.1:c.73160A>T (TTN)	XP_024308863.1:p.Glu24387Val
XM_024453096.1:c.72593A>T (TTN)	XP_024308864.1:p.Glu24198Val
XM_024453097.1:c.69935A>T (TTN)	XP_024308865.1:p.Glu23312Val
XM_024453098.1:c.69854A>T (TTN)	XP_024308866.1:p.Glu23285Val
XM_024453099.1:c.51617A>T (TTN)	XP_024308867.1:p.Glu17206Val
XM_024453100.1:c.41471A>T (TTN)	XP_024308868.1:p.Glu13824Val