Canonical Allele Identifier: CA349512838

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417409C>A (hg19) ; chr2:g.178552682C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552682C>A , CM000664.2:g.178552682C>A	GRCh38
NC_000002.11:g.179417409C>A , CM000664.1:g.179417409C>A	GRCh37
NC_000002.10:g.179125655C>A	NCBI36
NG_011618.3:g.283121G>T , LRG_391:g.283121G>T
NG_051363.1:g.34856C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82514G>T (TTN)	ENSP00000343764.6:p.Gly27505Val
ENST00000342175.11:c.63599G>T (TTN)	ENSP00000340554.6:p.Gly21200Val
ENST00000359218.10:c.63398G>T (TTN)	ENSP00000352154.5:p.Gly21133Val
ENST00000342175.10:c.63599G>T (TTN)	ENSP00000340554.6:p.Gly21200Val
ENST00000342992.10:c.82514G>T (TTN)	ENSP00000343764.6:p.Gly27505Val
ENST00000359218.9:c.63398G>T (TTN)	ENSP00000352154.5:p.Gly21133Val
ENST00000460472.6:c.63023G>T (TTN)	ENSP00000434586.1:p.Gly21008Val
ENST00000589042.5:c.90218G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly30073Val
ENST00000591111.5:c.85295G>T (TTN)	ENSP00000465570.1:p.Gly28432Val
ENST00000615779.4:c.85295G>T (TTN)	ENSP00000483597.1:p.Gly28432Val
NM_001256850.1:c.85295G>T (TTN)	NP_001243779.1:p.Gly28432Val
NM_001267550.2:c.90218G>T (TTN) MANE Select	NP_001254479.2:p.Gly30073Val
NM_003319.4:c.63023G>T (TTN)	NP_003310.4:p.Gly21008Val
NM_133378.4:c.82514G>T (TTN)	NP_596869.4:p.Gly27505Val
NM_133432.3:c.63398G>T (TTN)	NP_597676.3:p.Gly21133Val
NM_133437.4:c.63599G>T (TTN)	NP_597681.4:p.Gly21200Val
NR_038271.1:n.447-18618C>A (TTN-AS1)
NR_038272.1:n.2043+10321C>A (TTN-AS1)
XM_011511729.1:c.89315G>T (TTN)	XP_011510031.1:p.Gly29772Val
XM_011511730.1:c.63209G>T (TTN)	XP_011510032.1:p.Gly21070Val
XM_011511731.1:c.63068G>T (TTN)	XP_011510033.1:p.Gly21023Val
XM_017004819.1:c.89111G>T (TTN)	XP_016860308.1:p.Gly29704Val
XM_017004820.1:c.84509G>T (TTN)	XP_016860309.1:p.Gly28170Val
XM_017004821.1:c.84506G>T (TTN)	XP_016860310.1:p.Gly28169Val
XM_017004822.1:c.81548G>T (TTN)	XP_016860311.1:p.Gly27183Val
XM_017004823.1:c.63164G>T (TTN)	XP_016860312.1:p.Gly21055Val
XM_024453094.1:c.84659G>T (TTN)	XP_024308862.1:p.Gly28220Val
XM_024453095.1:c.84656G>T (TTN)	XP_024308863.1:p.Gly28219Val
XM_024453096.1:c.84089G>T (TTN)	XP_024308864.1:p.Gly28030Val
XM_024453097.1:c.81431G>T (TTN)	XP_024308865.1:p.Gly27144Val
XM_024453098.1:c.81350G>T (TTN)	XP_024308866.1:p.Gly27117Val
XM_024453099.1:c.63113G>T (TTN)	XP_024308867.1:p.Gly21038Val
XM_024453100.1:c.52967G>T (TTN)	XP_024308868.1:p.Gly17656Val