Canonical Allele Identifier: CA430241452

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408073T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543346T>G , CM000664.2:g.178543346T>G	GRCh38
NC_000002.11:g.179408073T>G , CM000664.1:g.179408073T>G	GRCh37
NC_000002.10:g.179116319T>G	NCBI36
NG_011618.3:g.292457A>C , LRG_391:g.292457A>C
NG_051363.1:g.25520T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88923A>C (TTN)	ENSP00000343764.6:p.Leu29641=
ENST00000342175.11:c.70008A>C (TTN)	ENSP00000340554.6:p.Leu23336=
ENST00000359218.10:c.69807A>C (TTN)	ENSP00000352154.5:p.Leu23269=
ENST00000342175.10:c.70008A>C (TTN)	ENSP00000340554.6:p.Leu23336=
ENST00000342992.10:c.88923A>C (TTN)	ENSP00000343764.6:p.Leu29641=
ENST00000359218.9:c.69807A>C (TTN)	ENSP00000352154.5:p.Leu23269=
ENST00000460472.6:c.69432A>C (TTN)	ENSP00000434586.1:p.Leu23144=
ENST00000589042.5:c.96627A>C (TTN) MANE Select	ENSP00000467141.1:p.Leu32209=
ENST00000591111.5:c.91704A>C (TTN)	ENSP00000465570.1:p.Leu30568=
ENST00000615779.4:c.91704A>C (TTN)	ENSP00000483597.1:p.Leu30568=
NM_001256850.1:c.91704A>C (TTN)	NP_001243779.1:p.Leu30568=
NM_001267550.2:c.96627A>C (TTN) MANE Select	NP_001254479.2:p.Leu32209=
NM_003319.4:c.69432A>C (TTN)	NP_003310.4:p.Leu23144=
NM_133378.4:c.88923A>C (TTN)	NP_596869.4:p.Leu29641=
NM_133432.3:c.69807A>C (TTN)	NP_597676.3:p.Leu23269=
NM_133437.4:c.70008A>C (TTN)	NP_597681.4:p.Leu23336=
NR_038271.1:n.446+19710T>G (TTN-AS1)
NR_038272.1:n.2043+985T>G (TTN-AS1)
XM_011511729.1:c.95724A>C (TTN)	XP_011510031.1:p.Leu31908=
XM_011511730.1:c.69618A>C (TTN)	XP_011510032.1:p.Leu23206=
XM_011511731.1:c.69477A>C (TTN)	XP_011510033.1:p.Leu23159=
XM_017004819.1:c.95520A>C (TTN)	XP_016860308.1:p.Leu31840=
XM_017004820.1:c.90918A>C (TTN)	XP_016860309.1:p.Leu30306=
XM_017004821.1:c.90915A>C (TTN)	XP_016860310.1:p.Leu30305=
XM_017004822.1:c.87957A>C (TTN)	XP_016860311.1:p.Leu29319=
XM_017004823.1:c.69573A>C (TTN)	XP_016860312.1:p.Leu23191=
XM_024453094.1:c.91068A>C (TTN)	XP_024308862.1:p.Leu30356=
XM_024453095.1:c.91065A>C (TTN)	XP_024308863.1:p.Leu30355=
XM_024453096.1:c.90498A>C (TTN)	XP_024308864.1:p.Leu30166=
XM_024453097.1:c.87840A>C (TTN)	XP_024308865.1:p.Leu29280=
XM_024453098.1:c.87759A>C (TTN)	XP_024308866.1:p.Leu29253=
XM_024453099.1:c.69522A>C (TTN)	XP_024308867.1:p.Leu23174=
XM_024453100.1:c.59376A>C (TTN)	XP_024308868.1:p.Leu19792=