Canonical Allele Identifier: CA349589065

Gene: TTN

Linked Data

• COSMIC: COSM4452124 ; COSM4452125
• MyVariant Identifiers: chr2:g.179598092T>C (hg19) ; chr2:g.178733365T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178733365T>C , CM000664.2:g.178733365T>C	GRCh38
NC_000002.11:g.179598092T>C , CM000664.1:g.179598092T>C	GRCh37
NC_000002.10:g.179306337T>C	NCBI36
NG_011618.3:g.102438A>G , LRG_391:g.102438A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.12196A>G	ENSP00000343764.6:p.Ser4066Gly
ENST00000342175.11:c.13858+4717A>G	ENSP00000340554.6:n.13858+4717A>G
ENST00000359218.10:c.13657+4717A>G	ENSP00000352154.5:n.13657+4717A>G
ENST00000342175.10:c.13858+4717A>G	ENSP00000340554.6:n.13858+4717A>G
ENST00000342992.10:c.12196A>G	ENSP00000343764.6:p.Ser4066Gly
ENST00000359218.9:c.13657+4717A>G	ENSP00000352154.5:n.13657+4717A>G
ENST00000460472.6:c.13282+4717A>G	ENSP00000434586.1:n.13282+4717A>G
ENST00000589042.5:c.15928A>G MANE Select	ENSP00000467141.1:p.Ser5310Gly
ENST00000591111.5:c.14977A>G	ENSP00000465570.1:p.Ser4993Gly
ENST00000615779.4:c.14977A>G	ENSP00000483597.1:p.Ser4993Gly
NM_001256850.1:c.14977A>G	NP_001243779.1:p.Ser4993Gly
NM_001267550.2:c.15928A>G MANE Select	NP_001254479.2:p.Ser5310Gly
NM_003319.4:c.13282+4717A>G	NP_003310.4:n.13282+4717A>G
NM_133378.4:c.12196A>G	NP_596869.4:p.Ser4066Gly
NM_133432.3:c.13657+4717A>G	NP_597676.3:n.13657+4717A>G
NM_133437.4:c.13858+4717A>G	NP_597681.4:n.13858+4717A>G
XM_011511729.1:c.15025A>G	XP_011510031.1:p.Ser5009Gly
XM_011511730.1:c.13468+4717A>G	XP_011510032.1:n.13468+4717A>G
XM_011511731.1:c.13327+4717A>G	XP_011510033.1:n.13327+4717A>G
XM_017004819.1:c.14980A>G	XP_016860308.1:p.Ser4994Gly
XM_017004820.1:c.12199A>G	XP_016860309.1:p.Ser4067Gly
XM_017004821.1:c.12196A>G	XP_016860310.1:p.Ser4066Gly
XM_017004822.1:c.14980A>G	XP_016860311.1:p.Ser4994Gly
XM_017004823.1:c.13423+4717A>G	XP_016860312.1:n.13423+4717A>G
XM_024453094.1:c.14980A>G	XP_024308862.1:p.Ser4994Gly
XM_024453095.1:c.14980A>G	XP_024308863.1:p.Ser4994Gly
XM_024453096.1:c.14980A>G	XP_024308864.1:p.Ser4994Gly
XM_024453097.1:c.14980A>G	XP_024308865.1:p.Ser4994Gly
XM_024453098.1:c.14980A>G	XP_024308866.1:p.Ser4994Gly
XM_024453099.1:c.13423+4717A>G	XP_024308867.1:n.13423+4717A>G