Canonical Allele Identifier: CA349614347

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178569429-A-G
• MyVariant Identifiers: chr2:g.179434156A>G (hg19) ; chr2:g.178569429A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569429A>G , CM000664.2:g.178569429A>G	GRCh38
NC_000002.11:g.179434156A>G , CM000664.1:g.179434156A>G	GRCh37
NC_000002.10:g.179142402A>G	NCBI36
NG_011618.3:g.266374T>C , LRG_391:g.266374T>C
NG_051363.1:g.51603A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68999T>C (TTN)	ENSP00000343764.6:p.Leu23000Pro
ENST00000342175.11:c.50084T>C (TTN)	ENSP00000340554.6:p.Leu16695Pro
ENST00000359218.10:c.49883T>C (TTN)	ENSP00000352154.5:p.Leu16628Pro
ENST00000342175.10:c.50084T>C (TTN)	ENSP00000340554.6:p.Leu16695Pro
ENST00000342992.10:c.68999T>C (TTN)	ENSP00000343764.6:p.Leu23000Pro
ENST00000359218.9:c.49883T>C (TTN)	ENSP00000352154.5:p.Leu16628Pro
ENST00000460472.6:c.49508T>C (TTN)	ENSP00000434586.1:p.Leu16503Pro
ENST00000589042.5:c.76703T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu25568Pro
ENST00000591111.5:c.71780T>C (TTN)	ENSP00000465570.1:p.Leu23927Pro
ENST00000615779.4:c.71780T>C (TTN)	ENSP00000483597.1:p.Leu23927Pro
NM_001256850.1:c.71780T>C (TTN)	NP_001243779.1:p.Leu23927Pro
NM_001267550.2:c.76703T>C (TTN) MANE Select	NP_001254479.2:p.Leu25568Pro
NM_003319.4:c.49508T>C (TTN)	NP_003310.4:p.Leu16503Pro
NM_133378.4:c.68999T>C (TTN)	NP_596869.4:p.Leu23000Pro
NM_133432.3:c.49883T>C (TTN)	NP_597676.3:p.Leu16628Pro
NM_133437.4:c.50084T>C (TTN)	NP_597681.4:p.Leu16695Pro
NR_038271.1:n.447-1871A>G (TTN-AS1)
NR_038272.1:n.2044-13143A>G (TTN-AS1)
XM_011511729.1:c.75800T>C (TTN)	XP_011510031.1:p.Leu25267Pro
XM_011511730.1:c.49694T>C (TTN)	XP_011510032.1:p.Leu16565Pro
XM_011511731.1:c.49553T>C (TTN)	XP_011510033.1:p.Leu16518Pro
XM_017004819.1:c.75596T>C (TTN)	XP_016860308.1:p.Leu25199Pro
XM_017004820.1:c.70994T>C (TTN)	XP_016860309.1:p.Leu23665Pro
XM_017004821.1:c.70991T>C (TTN)	XP_016860310.1:p.Leu23664Pro
XM_017004822.1:c.68033T>C (TTN)	XP_016860311.1:p.Leu22678Pro
XM_017004823.1:c.49649T>C (TTN)	XP_016860312.1:p.Leu16550Pro
XM_024453094.1:c.71144T>C (TTN)	XP_024308862.1:p.Leu23715Pro
XM_024453095.1:c.71141T>C (TTN)	XP_024308863.1:p.Leu23714Pro
XM_024453096.1:c.70574T>C (TTN)	XP_024308864.1:p.Leu23525Pro
XM_024453097.1:c.67916T>C (TTN)	XP_024308865.1:p.Leu22639Pro
XM_024453098.1:c.67835T>C (TTN)	XP_024308866.1:p.Leu22612Pro
XM_024453099.1:c.49598T>C (TTN)	XP_024308867.1:p.Leu16533Pro
XM_024453100.1:c.39452T>C (TTN)	XP_024308868.1:p.Leu13151Pro