Canonical Allele Identifier: CA349483961

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179523446G>A (hg19) ; chr2:g.178658719G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178658719G>A , CM000664.2:g.178658719G>A	GRCh38
NC_000002.11:g.179523446G>A , CM000664.1:g.179523446G>A	GRCh37
NC_000002.10:g.179231691G>A	NCBI36
NG_011618.3:g.177084C>T , LRG_391:g.177084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.31741+286C>T	ENSP00000343764.6:n.31741+286C>T
ENST00000342175.11:c.13859-16402C>T	ENSP00000340554.6:n.13859-16402C>T
ENST00000359218.10:c.13658-16402C>T	ENSP00000352154.5:n.13658-16402C>T
ENST00000342175.10:c.13859-16402C>T	ENSP00000340554.6:n.13859-16402C>T
ENST00000342992.10:c.31741+286C>T	ENSP00000343764.6:n.31741+286C>T
ENST00000359218.9:c.13658-16402C>T	ENSP00000352154.5:n.13658-16402C>T
ENST00000414766.5:c.2440+14914C>T	ENSP00000401501.1:n.2440+14914C>T
ENST00000460472.6:c.13283-16402C>T	ENSP00000434586.1:n.13283-16402C>T
ENST00000589042.5:c.37529C>T MANE Select	ENSP00000467141.1:p.Ala12510Val
ENST00000591111.5:c.34340C>T	ENSP00000465570.1:p.Ala11447Val
ENST00000615779.4:c.34522+286C>T	ENSP00000483597.1:n.34522+286C>T
NM_001256850.1:c.34522+286C>T	NP_001243779.1:n.34522+286C>T
NM_001267550.2:c.37529C>T MANE Select	NP_001254479.2:p.Ala12510Val
NM_003319.4:c.13283-16402C>T	NP_003310.4:n.13283-16402C>T
NM_133378.4:c.31741+286C>T	NP_596869.4:n.31741+286C>T
NM_133432.3:c.13658-16402C>T	NP_597676.3:n.13658-16402C>T
NM_133437.4:c.13859-16402C>T	NP_597681.4:n.13859-16402C>T
XM_011511729.1:c.36626C>T	XP_011510031.1:p.Ala12209Val
XM_011511730.1:c.13469-16402C>T	XP_011510032.1:n.13469-16402C>T
XM_011511731.1:c.13328-16402C>T	XP_011510033.1:n.13328-16402C>T
XM_017004819.1:c.36422C>T	XP_016860308.1:p.Ala12141Val
XM_017004820.1:c.31820C>T	XP_016860309.1:p.Ala10607Val
XM_017004821.1:c.31817C>T	XP_016860310.1:p.Ala10606Val
XM_017004822.1:c.31858+14914C>T	XP_016860311.1:n.31858+14914C>T
XM_017004823.1:c.13424-16402C>T	XP_016860312.1:n.13424-16402C>T
XM_024453094.1:c.33464C>T	XP_024308862.1:p.Ala11155Val
XM_024453095.1:c.33461C>T	XP_024308863.1:p.Ala11154Val
XM_024453096.1:c.32894C>T	XP_024308864.1:p.Ala10965Val
XM_024453097.1:c.31690+14914C>T	XP_024308865.1:n.31690+14914C>T
XM_024453098.1:c.31609+14914C>T	XP_024308866.1:n.31609+14914C>T
XM_024453099.1:c.13424-16402C>T	XP_024308867.1:n.13424-16402C>T
XM_024453100.1:c.278C>T	XP_024308868.1:p.Ala93Val