Canonical Allele Identifier: CA430244827

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549796-A-G
• MyVariant Identifiers: chr2:g.179414523A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549796A>G , CM000664.2:g.178549796A>G	GRCh38
NC_000002.11:g.179414523A>G , CM000664.1:g.179414523A>G	GRCh37
NC_000002.10:g.179122769A>G	NCBI36
NG_011618.3:g.286007T>C , LRG_391:g.286007T>C
NG_051363.1:g.31970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84222T>C (TTN)	ENSP00000343764.6:p.Asp28074=
ENST00000342175.11:c.65307T>C (TTN)	ENSP00000340554.6:p.Asp21769=
ENST00000359218.10:c.65106T>C (TTN)	ENSP00000352154.5:p.Asp21702=
ENST00000342175.10:c.65307T>C (TTN)	ENSP00000340554.6:p.Asp21769=
ENST00000342992.10:c.84222T>C (TTN)	ENSP00000343764.6:p.Asp28074=
ENST00000359218.9:c.65106T>C (TTN)	ENSP00000352154.5:p.Asp21702=
ENST00000460472.6:c.64731T>C (TTN)	ENSP00000434586.1:p.Asp21577=
ENST00000589042.5:c.91926T>C (TTN) MANE Select	ENSP00000467141.1:p.Asp30642=
ENST00000591111.5:c.87003T>C (TTN)	ENSP00000465570.1:p.Asp29001=
ENST00000615779.4:c.87003T>C (TTN)	ENSP00000483597.1:p.Asp29001=
NM_001256850.1:c.87003T>C (TTN)	NP_001243779.1:p.Asp29001=
NM_001267550.2:c.91926T>C (TTN) MANE Select	NP_001254479.2:p.Asp30642=
NM_003319.4:c.64731T>C (TTN)	NP_003310.4:p.Asp21577=
NM_133378.4:c.84222T>C (TTN)	NP_596869.4:p.Asp28074=
NM_133432.3:c.65106T>C (TTN)	NP_597676.3:p.Asp21702=
NM_133437.4:c.65307T>C (TTN)	NP_597681.4:p.Asp21769=
NR_038271.1:n.447-21504A>G (TTN-AS1)
NR_038272.1:n.2043+7435A>G (TTN-AS1)
XM_011511729.1:c.91023T>C (TTN)	XP_011510031.1:p.Asp30341=
XM_011511730.1:c.64917T>C (TTN)	XP_011510032.1:p.Asp21639=
XM_011511731.1:c.64776T>C (TTN)	XP_011510033.1:p.Asp21592=
XM_017004819.1:c.90819T>C (TTN)	XP_016860308.1:p.Asp30273=
XM_017004820.1:c.86217T>C (TTN)	XP_016860309.1:p.Asp28739=
XM_017004821.1:c.86214T>C (TTN)	XP_016860310.1:p.Asp28738=
XM_017004822.1:c.83256T>C (TTN)	XP_016860311.1:p.Asp27752=
XM_017004823.1:c.64872T>C (TTN)	XP_016860312.1:p.Asp21624=
XM_024453094.1:c.86367T>C (TTN)	XP_024308862.1:p.Asp28789=
XM_024453095.1:c.86364T>C (TTN)	XP_024308863.1:p.Asp28788=
XM_024453096.1:c.85797T>C (TTN)	XP_024308864.1:p.Asp28599=
XM_024453097.1:c.83139T>C (TTN)	XP_024308865.1:p.Asp27713=
XM_024453098.1:c.83058T>C (TTN)	XP_024308866.1:p.Asp27686=
XM_024453099.1:c.64821T>C (TTN)	XP_024308867.1:p.Asp21607=
XM_024453100.1:c.54675T>C (TTN)	XP_024308868.1:p.Asp18225=