Canonical Allele Identifier: CA430269266

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179466268G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601541G>A , CM000664.2:g.178601541G>A	GRCh38
NC_000002.11:g.179466268G>A , CM000664.1:g.179466268G>A	GRCh37
NC_000002.10:g.179174513G>A	NCBI36
NG_011618.3:g.234262C>T , LRG_391:g.234262C>T
NG_051363.1:g.83715G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47752C>T (TTN)	ENSP00000343764.6:p.Leu15918=
ENST00000342175.11:c.28837C>T (TTN)	ENSP00000340554.6:p.Leu9613=
ENST00000359218.10:c.28636C>T (TTN)	ENSP00000352154.5:p.Leu9546=
ENST00000342175.10:c.28837C>T (TTN)	ENSP00000340554.6:p.Leu9613=
ENST00000342992.10:c.47752C>T (TTN)	ENSP00000343764.6:p.Leu15918=
ENST00000359218.9:c.28636C>T (TTN)	ENSP00000352154.5:p.Leu9546=
ENST00000460472.6:c.28261C>T (TTN)	ENSP00000434586.1:p.Leu9421=
ENST00000589042.5:c.55456C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu18486=
ENST00000591111.5:c.50533C>T (TTN)	ENSP00000465570.1:p.Leu16845=
ENST00000615779.4:c.50533C>T (TTN)	ENSP00000483597.1:p.Leu16845=
NM_001256850.1:c.50533C>T (TTN)	NP_001243779.1:p.Leu16845=
NM_001267550.2:c.55456C>T (TTN) MANE Select	NP_001254479.2:p.Leu18486=
NM_003319.4:c.28261C>T (TTN)	NP_003310.4:p.Leu9421=
NM_133378.4:c.47752C>T (TTN)	NP_596869.4:p.Leu15918=
NM_133432.3:c.28636C>T (TTN)	NP_597676.3:p.Leu9546=
NM_133437.4:c.28837C>T (TTN)	NP_597681.4:p.Leu9613=
NR_038271.1:n.682+3860G>A (TTN-AS1)
NR_038272.1:n.3917+874G>A (TTN-AS1)
XM_011511729.1:c.54553C>T (TTN)	XP_011510031.1:p.Leu18185=
XM_011511730.1:c.28447C>T (TTN)	XP_011510032.1:p.Leu9483=
XM_011511731.1:c.28306C>T (TTN)	XP_011510033.1:p.Leu9436=
XM_017004819.1:c.54349C>T (TTN)	XP_016860308.1:p.Leu18117=
XM_017004820.1:c.49747C>T (TTN)	XP_016860309.1:p.Leu16583=
XM_017004821.1:c.49744C>T (TTN)	XP_016860310.1:p.Leu16582=
XM_017004822.1:c.46786C>T (TTN)	XP_016860311.1:p.Leu15596=
XM_017004823.1:c.28402C>T (TTN)	XP_016860312.1:p.Leu9468=
XM_024453094.1:c.49897C>T (TTN)	XP_024308862.1:p.Leu16633=
XM_024453095.1:c.49894C>T (TTN)	XP_024308863.1:p.Leu16632=
XM_024453096.1:c.49327C>T (TTN)	XP_024308864.1:p.Leu16443=
XM_024453097.1:c.46669C>T (TTN)	XP_024308865.1:p.Leu15557=
XM_024453098.1:c.46588C>T (TTN)	XP_024308866.1:p.Leu15530=
XM_024453099.1:c.28351C>T (TTN)	XP_024308867.1:p.Leu9451=
XM_024453100.1:c.18205C>T (TTN)	XP_024308868.1:p.Leu6069=