Canonical Allele Identifier: CA430267317

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457518T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592791T>A , CM000664.2:g.178592791T>A	GRCh38
NC_000002.11:g.179457518T>A , CM000664.1:g.179457518T>A	GRCh37
NC_000002.10:g.179165764T>A	NCBI36
NG_011618.3:g.243012A>T , LRG_391:g.243012A>T
NG_051363.1:g.74965T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51624A>T (TTN)	ENSP00000343764.6:p.Leu17208=
ENST00000342175.11:c.32709A>T (TTN)	ENSP00000340554.6:p.Leu10903=
ENST00000359218.10:c.32508A>T (TTN)	ENSP00000352154.5:p.Leu10836=
ENST00000342175.10:c.32709A>T (TTN)	ENSP00000340554.6:p.Leu10903=
ENST00000342992.10:c.51624A>T (TTN)	ENSP00000343764.6:p.Leu17208=
ENST00000359218.9:c.32508A>T (TTN)	ENSP00000352154.5:p.Leu10836=
ENST00000460472.6:c.32133A>T (TTN)	ENSP00000434586.1:p.Leu10711=
ENST00000589042.5:c.59328A>T (TTN) MANE Select	ENSP00000467141.1:p.Leu19776=
ENST00000591111.5:c.54405A>T (TTN)	ENSP00000465570.1:p.Leu18135=
ENST00000615779.4:c.54405A>T (TTN)	ENSP00000483597.1:p.Leu18135=
NM_001256850.1:c.54405A>T (TTN)	NP_001243779.1:p.Leu18135=
NM_001267550.2:c.59328A>T (TTN) MANE Select	NP_001254479.2:p.Leu19776=
NM_003319.4:c.32133A>T (TTN)	NP_003310.4:p.Leu10711=
NM_133378.4:c.51624A>T (TTN)	NP_596869.4:p.Leu17208=
NM_133432.3:c.32508A>T (TTN)	NP_597676.3:p.Leu10836=
NM_133437.4:c.32709A>T (TTN)	NP_597681.4:p.Leu10903=
NR_038271.1:n.597-4805T>A (TTN-AS1)
NR_038272.1:n.3364+1477T>A (TTN-AS1)
XM_011511729.1:c.58425A>T (TTN)	XP_011510031.1:p.Leu19475=
XM_011511730.1:c.32319A>T (TTN)	XP_011510032.1:p.Leu10773=
XM_011511731.1:c.32178A>T (TTN)	XP_011510033.1:p.Leu10726=
XM_017004819.1:c.58221A>T (TTN)	XP_016860308.1:p.Leu19407=
XM_017004820.1:c.53619A>T (TTN)	XP_016860309.1:p.Leu17873=
XM_017004821.1:c.53616A>T (TTN)	XP_016860310.1:p.Leu17872=
XM_017004822.1:c.50658A>T (TTN)	XP_016860311.1:p.Leu16886=
XM_017004823.1:c.32274A>T (TTN)	XP_016860312.1:p.Leu10758=
XM_024453094.1:c.53769A>T (TTN)	XP_024308862.1:p.Leu17923=
XM_024453095.1:c.53766A>T (TTN)	XP_024308863.1:p.Leu17922=
XM_024453096.1:c.53199A>T (TTN)	XP_024308864.1:p.Leu17733=
XM_024453097.1:c.50541A>T (TTN)	XP_024308865.1:p.Leu16847=
XM_024453098.1:c.50460A>T (TTN)	XP_024308866.1:p.Leu16820=
XM_024453099.1:c.32223A>T (TTN)	XP_024308867.1:p.Leu10741=
XM_024453100.1:c.22077A>T (TTN)	XP_024308868.1:p.Leu7359=