Canonical Allele Identifier: CA430253862

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434155A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569428A>T , CM000664.2:g.178569428A>T	GRCh38
NC_000002.11:g.179434155A>T , CM000664.1:g.179434155A>T	GRCh37
NC_000002.10:g.179142401A>T	NCBI36
NG_011618.3:g.266375T>A , LRG_391:g.266375T>A
NG_051363.1:g.51602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69000T>A (TTN)	ENSP00000343764.6:p.Leu23000=
ENST00000342175.11:c.50085T>A (TTN)	ENSP00000340554.6:p.Leu16695=
ENST00000359218.10:c.49884T>A (TTN)	ENSP00000352154.5:p.Leu16628=
ENST00000342175.10:c.50085T>A (TTN)	ENSP00000340554.6:p.Leu16695=
ENST00000342992.10:c.69000T>A (TTN)	ENSP00000343764.6:p.Leu23000=
ENST00000359218.9:c.49884T>A (TTN)	ENSP00000352154.5:p.Leu16628=
ENST00000460472.6:c.49509T>A (TTN)	ENSP00000434586.1:p.Leu16503=
ENST00000589042.5:c.76704T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu25568=
ENST00000591111.5:c.71781T>A (TTN)	ENSP00000465570.1:p.Leu23927=
ENST00000615779.4:c.71781T>A (TTN)	ENSP00000483597.1:p.Leu23927=
NM_001256850.1:c.71781T>A (TTN)	NP_001243779.1:p.Leu23927=
NM_001267550.2:c.76704T>A (TTN) MANE Select	NP_001254479.2:p.Leu25568=
NM_003319.4:c.49509T>A (TTN)	NP_003310.4:p.Leu16503=
NM_133378.4:c.69000T>A (TTN)	NP_596869.4:p.Leu23000=
NM_133432.3:c.49884T>A (TTN)	NP_597676.3:p.Leu16628=
NM_133437.4:c.50085T>A (TTN)	NP_597681.4:p.Leu16695=
NR_038271.1:n.447-1872A>T (TTN-AS1)
NR_038272.1:n.2044-13144A>T (TTN-AS1)
XM_011511729.1:c.75801T>A (TTN)	XP_011510031.1:p.Leu25267=
XM_011511730.1:c.49695T>A (TTN)	XP_011510032.1:p.Leu16565=
XM_011511731.1:c.49554T>A (TTN)	XP_011510033.1:p.Leu16518=
XM_017004819.1:c.75597T>A (TTN)	XP_016860308.1:p.Leu25199=
XM_017004820.1:c.70995T>A (TTN)	XP_016860309.1:p.Leu23665=
XM_017004821.1:c.70992T>A (TTN)	XP_016860310.1:p.Leu23664=
XM_017004822.1:c.68034T>A (TTN)	XP_016860311.1:p.Leu22678=
XM_017004823.1:c.49650T>A (TTN)	XP_016860312.1:p.Leu16550=
XM_024453094.1:c.71145T>A (TTN)	XP_024308862.1:p.Leu23715=
XM_024453095.1:c.71142T>A (TTN)	XP_024308863.1:p.Leu23714=
XM_024453096.1:c.70575T>A (TTN)	XP_024308864.1:p.Leu23525=
XM_024453097.1:c.67917T>A (TTN)	XP_024308865.1:p.Leu22639=
XM_024453098.1:c.67836T>A (TTN)	XP_024308866.1:p.Leu22612=
XM_024453099.1:c.49599T>A (TTN)	XP_024308867.1:p.Leu16533=
XM_024453100.1:c.39453T>A (TTN)	XP_024308868.1:p.Leu13151=