Canonical Allele Identifier: CA349484502

Gene: TTN

Linked Data

• dbSNP Id: rs2064188224
• gnomAD v3: 2-178658791-G-A
• gnomAD v4: 2-178658791-G-A
• MyVariant Identifiers: chr2:g.179523518G>A (hg19) ; chr2:g.178658791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178658791G>A , CM000664.2:g.178658791G>A	GRCh38
NC_000002.11:g.179523518G>A , CM000664.1:g.179523518G>A	GRCh37
NC_000002.10:g.179231763G>A	NCBI36
NG_011618.3:g.177012C>T , LRG_391:g.177012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.31741+214C>T	ENSP00000343764.6:n.31741+214C>T
ENST00000342175.11:c.13859-16474C>T	ENSP00000340554.6:n.13859-16474C>T
ENST00000359218.10:c.13658-16474C>T	ENSP00000352154.5:n.13658-16474C>T
ENST00000342175.10:c.13859-16474C>T	ENSP00000340554.6:n.13859-16474C>T
ENST00000342992.10:c.31741+214C>T	ENSP00000343764.6:n.31741+214C>T
ENST00000359218.9:c.13658-16474C>T	ENSP00000352154.5:n.13658-16474C>T
ENST00000414766.5:c.2440+14842C>T	ENSP00000401501.1:n.2440+14842C>T
ENST00000460472.6:c.13283-16474C>T	ENSP00000434586.1:n.13283-16474C>T
ENST00000589042.5:c.37457C>T MANE Select	ENSP00000467141.1:p.Pro12486Leu
ENST00000591111.5:c.34268C>T	ENSP00000465570.1:p.Pro11423Leu
ENST00000615779.4:c.34522+214C>T	ENSP00000483597.1:n.34522+214C>T
NM_001256850.1:c.34522+214C>T	NP_001243779.1:n.34522+214C>T
NM_001267550.2:c.37457C>T MANE Select	NP_001254479.2:p.Pro12486Leu
NM_003319.4:c.13283-16474C>T	NP_003310.4:n.13283-16474C>T
NM_133378.4:c.31741+214C>T	NP_596869.4:n.31741+214C>T
NM_133432.3:c.13658-16474C>T	NP_597676.3:n.13658-16474C>T
NM_133437.4:c.13859-16474C>T	NP_597681.4:n.13859-16474C>T
XM_011511729.1:c.36554C>T	XP_011510031.1:p.Pro12185Leu
XM_011511730.1:c.13469-16474C>T	XP_011510032.1:n.13469-16474C>T
XM_011511731.1:c.13328-16474C>T	XP_011510033.1:n.13328-16474C>T
XM_017004819.1:c.36350C>T	XP_016860308.1:p.Pro12117Leu
XM_017004820.1:c.31748C>T	XP_016860309.1:p.Pro10583Leu
XM_017004821.1:c.31745C>T	XP_016860310.1:p.Pro10582Leu
XM_017004822.1:c.31858+14842C>T	XP_016860311.1:n.31858+14842C>T
XM_017004823.1:c.13424-16474C>T	XP_016860312.1:n.13424-16474C>T
XM_024453094.1:c.33392C>T	XP_024308862.1:p.Pro11131Leu
XM_024453095.1:c.33389C>T	XP_024308863.1:p.Pro11130Leu
XM_024453096.1:c.32822C>T	XP_024308864.1:p.Pro10941Leu
XM_024453097.1:c.31690+14842C>T	XP_024308865.1:n.31690+14842C>T
XM_024453098.1:c.31609+14842C>T	XP_024308866.1:n.31609+14842C>T
XM_024453099.1:c.13424-16474C>T	XP_024308867.1:n.13424-16474C>T
XM_024453100.1:c.206C>T	XP_024308868.1:p.Pro69Leu