Canonical Allele Identifier: CA349545187

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179467058T>A (hg19) ; chr2:g.178602331T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602331T>A , CM000664.2:g.178602331T>A	GRCh38
NC_000002.11:g.179467058T>A , CM000664.1:g.179467058T>A	GRCh37
NC_000002.10:g.179175303T>A	NCBI36
NG_011618.3:g.233472A>T , LRG_391:g.233472A>T
NG_051363.1:g.84505T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47367A>T (TTN)	ENSP00000343764.6:p.Glu15789Asp
ENST00000342175.11:c.28452A>T (TTN)	ENSP00000340554.6:p.Glu9484Asp
ENST00000359218.10:c.28251A>T (TTN)	ENSP00000352154.5:p.Glu9417Asp
ENST00000342175.10:c.28452A>T (TTN)	ENSP00000340554.6:p.Glu9484Asp
ENST00000342992.10:c.47367A>T (TTN)	ENSP00000343764.6:p.Glu15789Asp
ENST00000359218.9:c.28251A>T (TTN)	ENSP00000352154.5:p.Glu9417Asp
ENST00000460472.6:c.27876A>T (TTN)	ENSP00000434586.1:p.Glu9292Asp
ENST00000589042.5:c.55071A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu18357Asp
ENST00000591111.5:c.50148A>T (TTN)	ENSP00000465570.1:p.Glu16716Asp
ENST00000615779.4:c.50148A>T (TTN)	ENSP00000483597.1:p.Glu16716Asp
NM_001256850.1:c.50148A>T (TTN)	NP_001243779.1:p.Glu16716Asp
NM_001267550.2:c.55071A>T (TTN) MANE Select	NP_001254479.2:p.Glu18357Asp
NM_003319.4:c.27876A>T (TTN)	NP_003310.4:p.Glu9292Asp
NM_133378.4:c.47367A>T (TTN)	NP_596869.4:p.Glu15789Asp
NM_133432.3:c.28251A>T (TTN)	NP_597676.3:p.Glu9417Asp
NM_133437.4:c.28452A>T (TTN)	NP_597681.4:p.Glu9484Asp
NR_038271.1:n.682+4650T>A (TTN-AS1)
NR_038272.1:n.3917+1664T>A (TTN-AS1)
XM_011511729.1:c.54168A>T (TTN)	XP_011510031.1:p.Glu18056Asp
XM_011511730.1:c.28062A>T (TTN)	XP_011510032.1:p.Glu9354Asp
XM_011511731.1:c.27921A>T (TTN)	XP_011510033.1:p.Glu9307Asp
XM_017004819.1:c.53964A>T (TTN)	XP_016860308.1:p.Glu17988Asp
XM_017004820.1:c.49362A>T (TTN)	XP_016860309.1:p.Glu16454Asp
XM_017004821.1:c.49359A>T (TTN)	XP_016860310.1:p.Glu16453Asp
XM_017004822.1:c.46401A>T (TTN)	XP_016860311.1:p.Glu15467Asp
XM_017004823.1:c.28017A>T (TTN)	XP_016860312.1:p.Glu9339Asp
XM_024453094.1:c.49512A>T (TTN)	XP_024308862.1:p.Glu16504Asp
XM_024453095.1:c.49509A>T (TTN)	XP_024308863.1:p.Glu16503Asp
XM_024453096.1:c.48942A>T (TTN)	XP_024308864.1:p.Glu16314Asp
XM_024453097.1:c.46284A>T (TTN)	XP_024308865.1:p.Glu15428Asp
XM_024453098.1:c.46203A>T (TTN)	XP_024308866.1:p.Glu15401Asp
XM_024453099.1:c.27966A>T (TTN)	XP_024308867.1:p.Glu9322Asp
XM_024453100.1:c.17820A>T (TTN)	XP_024308868.1:p.Glu5940Asp