Canonical Allele Identifier: CA349618749

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482936A>T (hg19) ; chr2:g.178618209A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618209A>T , CM000664.2:g.178618209A>T	GRCh38
NC_000002.11:g.179482936A>T , CM000664.1:g.179482936A>T	GRCh37
NC_000002.10:g.179191181A>T	NCBI36
NG_011618.3:g.217594T>A , LRG_391:g.217594T>A
NG_051363.1:g.100383A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39545T>A (TTN)	ENSP00000343764.6:p.Val13182Glu
ENST00000342175.11:c.20630T>A (TTN)	ENSP00000340554.6:p.Val6877Glu
ENST00000359218.10:c.20429T>A (TTN)	ENSP00000352154.5:p.Val6810Glu
ENST00000342175.10:c.20630T>A (TTN)	ENSP00000340554.6:p.Val6877Glu
ENST00000342992.10:c.39545T>A (TTN)	ENSP00000343764.6:p.Val13182Glu
ENST00000359218.9:c.20429T>A (TTN)	ENSP00000352154.5:p.Val6810Glu
ENST00000460472.6:c.20054T>A (TTN)	ENSP00000434586.1:p.Val6685Glu
ENST00000589042.5:c.47249T>A (TTN) MANE Select	ENSP00000467141.1:p.Val15750Glu
ENST00000591111.5:c.42326T>A (TTN)	ENSP00000465570.1:p.Val14109Glu
ENST00000615779.4:c.42326T>A (TTN)	ENSP00000483597.1:p.Val14109Glu
NM_001256850.1:c.42326T>A (TTN)	NP_001243779.1:p.Val14109Glu
NM_001267550.2:c.47249T>A (TTN) MANE Select	NP_001254479.2:p.Val15750Glu
NM_003319.4:c.20054T>A (TTN)	NP_003310.4:p.Val6685Glu
NM_133378.4:c.39545T>A (TTN)	NP_596869.4:p.Val13182Glu
NM_133432.3:c.20429T>A (TTN)	NP_597676.3:p.Val6810Glu
NM_133437.4:c.20630T>A (TTN)	NP_597681.4:p.Val6877Glu
NR_038271.1:n.1605-1544A>T (TTN-AS1)
XM_011511729.1:c.46346T>A (TTN)	XP_011510031.1:p.Val15449Glu
XM_011511730.1:c.20240T>A (TTN)	XP_011510032.1:p.Val6747Glu
XM_011511731.1:c.20099T>A (TTN)	XP_011510033.1:p.Val6700Glu
XM_017004819.1:c.46142T>A (TTN)	XP_016860308.1:p.Val15381Glu
XM_017004820.1:c.41540T>A (TTN)	XP_016860309.1:p.Val13847Glu
XM_017004821.1:c.41537T>A (TTN)	XP_016860310.1:p.Val13846Glu
XM_017004822.1:c.38579T>A (TTN)	XP_016860311.1:p.Val12860Glu
XM_017004823.1:c.20195T>A (TTN)	XP_016860312.1:p.Val6732Glu
XM_024453094.1:c.41690T>A (TTN)	XP_024308862.1:p.Val13897Glu
XM_024453095.1:c.41687T>A (TTN)	XP_024308863.1:p.Val13896Glu
XM_024453096.1:c.41120T>A (TTN)	XP_024308864.1:p.Val13707Glu
XM_024453097.1:c.38462T>A (TTN)	XP_024308865.1:p.Val12821Glu
XM_024453098.1:c.38381T>A (TTN)	XP_024308866.1:p.Val12794Glu
XM_024453099.1:c.20144T>A (TTN)	XP_024308867.1:p.Val6715Glu
XM_024453100.1:c.9998T>A (TTN)	XP_024308868.1:p.Val3333Glu