Canonical Allele Identifier: CA349511869

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417304T>A (hg19) ; chr2:g.178552577T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552577T>A , CM000664.2:g.178552577T>A	GRCh38
NC_000002.11:g.179417304T>A , CM000664.1:g.179417304T>A	GRCh37
NC_000002.10:g.179125550T>A	NCBI36
NG_011618.3:g.283226A>T , LRG_391:g.283226A>T
NG_051363.1:g.34751T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82619A>T (TTN)	ENSP00000343764.6:p.Glu27540Val
ENST00000342175.11:c.63704A>T (TTN)	ENSP00000340554.6:p.Glu21235Val
ENST00000359218.10:c.63503A>T (TTN)	ENSP00000352154.5:p.Glu21168Val
ENST00000342175.10:c.63704A>T (TTN)	ENSP00000340554.6:p.Glu21235Val
ENST00000342992.10:c.82619A>T (TTN)	ENSP00000343764.6:p.Glu27540Val
ENST00000359218.9:c.63503A>T (TTN)	ENSP00000352154.5:p.Glu21168Val
ENST00000460472.6:c.63128A>T (TTN)	ENSP00000434586.1:p.Glu21043Val
ENST00000589042.5:c.90323A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu30108Val
ENST00000591111.5:c.85400A>T (TTN)	ENSP00000465570.1:p.Glu28467Val
ENST00000615779.4:c.85400A>T (TTN)	ENSP00000483597.1:p.Glu28467Val
NM_001256850.1:c.85400A>T (TTN)	NP_001243779.1:p.Glu28467Val
NM_001267550.2:c.90323A>T (TTN) MANE Select	NP_001254479.2:p.Glu30108Val
NM_003319.4:c.63128A>T (TTN)	NP_003310.4:p.Glu21043Val
NM_133378.4:c.82619A>T (TTN)	NP_596869.4:p.Glu27540Val
NM_133432.3:c.63503A>T (TTN)	NP_597676.3:p.Glu21168Val
NM_133437.4:c.63704A>T (TTN)	NP_597681.4:p.Glu21235Val
NR_038271.1:n.447-18723T>A (TTN-AS1)
NR_038272.1:n.2043+10216T>A (TTN-AS1)
XM_011511729.1:c.89420A>T (TTN)	XP_011510031.1:p.Glu29807Val
XM_011511730.1:c.63314A>T (TTN)	XP_011510032.1:p.Glu21105Val
XM_011511731.1:c.63173A>T (TTN)	XP_011510033.1:p.Glu21058Val
XM_017004819.1:c.89216A>T (TTN)	XP_016860308.1:p.Glu29739Val
XM_017004820.1:c.84614A>T (TTN)	XP_016860309.1:p.Glu28205Val
XM_017004821.1:c.84611A>T (TTN)	XP_016860310.1:p.Glu28204Val
XM_017004822.1:c.81653A>T (TTN)	XP_016860311.1:p.Glu27218Val
XM_017004823.1:c.63269A>T (TTN)	XP_016860312.1:p.Glu21090Val
XM_024453094.1:c.84764A>T (TTN)	XP_024308862.1:p.Glu28255Val
XM_024453095.1:c.84761A>T (TTN)	XP_024308863.1:p.Glu28254Val
XM_024453096.1:c.84194A>T (TTN)	XP_024308864.1:p.Glu28065Val
XM_024453097.1:c.81536A>T (TTN)	XP_024308865.1:p.Glu27179Val
XM_024453098.1:c.81455A>T (TTN)	XP_024308866.1:p.Glu27152Val
XM_024453099.1:c.63218A>T (TTN)	XP_024308867.1:p.Glu21073Val
XM_024453100.1:c.53072A>T (TTN)	XP_024308868.1:p.Glu17691Val