Canonical Allele Identifier: CA349503336

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416465C>T (hg19) ; chr2:g.178551738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551738C>T , CM000664.2:g.178551738C>T	GRCh38
NC_000002.11:g.179416465C>T , CM000664.1:g.179416465C>T	GRCh37
NC_000002.10:g.179124711C>T	NCBI36
NG_011618.3:g.284065G>A , LRG_391:g.284065G>A
NG_051363.1:g.33912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83458G>A (TTN)	ENSP00000343764.6:p.Gly27820Arg
ENST00000342175.11:c.64543G>A (TTN)	ENSP00000340554.6:p.Gly21515Arg
ENST00000359218.10:c.64342G>A (TTN)	ENSP00000352154.5:p.Gly21448Arg
ENST00000342175.10:c.64543G>A (TTN)	ENSP00000340554.6:p.Gly21515Arg
ENST00000342992.10:c.83458G>A (TTN)	ENSP00000343764.6:p.Gly27820Arg
ENST00000359218.9:c.64342G>A (TTN)	ENSP00000352154.5:p.Gly21448Arg
ENST00000460472.6:c.63967G>A (TTN)	ENSP00000434586.1:p.Gly21323Arg
ENST00000589042.5:c.91162G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly30388Arg
ENST00000591111.5:c.86239G>A (TTN)	ENSP00000465570.1:p.Gly28747Arg
ENST00000615779.4:c.86239G>A (TTN)	ENSP00000483597.1:p.Gly28747Arg
NM_001256850.1:c.86239G>A (TTN)	NP_001243779.1:p.Gly28747Arg
NM_001267550.2:c.91162G>A (TTN) MANE Select	NP_001254479.2:p.Gly30388Arg
NM_003319.4:c.63967G>A (TTN)	NP_003310.4:p.Gly21323Arg
NM_133378.4:c.83458G>A (TTN)	NP_596869.4:p.Gly27820Arg
NM_133432.3:c.64342G>A (TTN)	NP_597676.3:p.Gly21448Arg
NM_133437.4:c.64543G>A (TTN)	NP_597681.4:p.Gly21515Arg
NR_038271.1:n.447-19562C>T (TTN-AS1)
NR_038272.1:n.2043+9377C>T (TTN-AS1)
XM_011511729.1:c.90259G>A (TTN)	XP_011510031.1:p.Gly30087Arg
XM_011511730.1:c.64153G>A (TTN)	XP_011510032.1:p.Gly21385Arg
XM_011511731.1:c.64012G>A (TTN)	XP_011510033.1:p.Gly21338Arg
XM_017004819.1:c.90055G>A (TTN)	XP_016860308.1:p.Gly30019Arg
XM_017004820.1:c.85453G>A (TTN)	XP_016860309.1:p.Gly28485Arg
XM_017004821.1:c.85450G>A (TTN)	XP_016860310.1:p.Gly28484Arg
XM_017004822.1:c.82492G>A (TTN)	XP_016860311.1:p.Gly27498Arg
XM_017004823.1:c.64108G>A (TTN)	XP_016860312.1:p.Gly21370Arg
XM_024453094.1:c.85603G>A (TTN)	XP_024308862.1:p.Gly28535Arg
XM_024453095.1:c.85600G>A (TTN)	XP_024308863.1:p.Gly28534Arg
XM_024453096.1:c.85033G>A (TTN)	XP_024308864.1:p.Gly28345Arg
XM_024453097.1:c.82375G>A (TTN)	XP_024308865.1:p.Gly27459Arg
XM_024453098.1:c.82294G>A (TTN)	XP_024308866.1:p.Gly27432Arg
XM_024453099.1:c.64057G>A (TTN)	XP_024308867.1:p.Gly21353Arg
XM_024453100.1:c.53911G>A (TTN)	XP_024308868.1:p.Gly17971Arg