Canonical Allele Identifier: CA430131353

Gene: TTN

Linked Data

• ClinVar Variation Id: 2132482
• ClinVar RCV Id: RCV003036759
• gnomAD v4: 2-178689567-T-C
• MyVariant Identifiers: chr2:g.179554294T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178689567T>C , CM000664.2:g.178689567T>C	GRCh38
NC_000002.11:g.179554294T>C , CM000664.1:g.179554294T>C	GRCh37
NC_000002.10:g.179262539T>C	NCBI36
NG_011618.3:g.146236A>G , LRG_391:g.146236A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.28143A>G	ENSP00000343764.6:p.Thr9381=
ENST00000342175.11:c.13859-47250A>G	ENSP00000340554.6:n.13859-47250A>G
ENST00000359218.10:c.13658-47250A>G	ENSP00000352154.5:n.13658-47250A>G
ENST00000342175.10:c.13859-47250A>G	ENSP00000340554.6:n.13859-47250A>G
ENST00000342992.10:c.28143A>G	ENSP00000343764.6:p.Thr9381=
ENST00000359218.9:c.13658-47250A>G	ENSP00000352154.5:n.13658-47250A>G
ENST00000414766.5:c.1509A>G	ENSP00000401501.1:p.Thr503=
ENST00000460472.6:c.13283-47250A>G	ENSP00000434586.1:n.13283-47250A>G
ENST00000589042.5:c.31875A>G MANE Select	ENSP00000467141.1:p.Thr10625=
ENST00000591111.5:c.30924A>G	ENSP00000465570.1:p.Thr10308=
ENST00000615779.4:c.30924A>G	ENSP00000483597.1:p.Thr10308=
NM_001256850.1:c.30924A>G	NP_001243779.1:p.Thr10308=
NM_001267550.2:c.31875A>G MANE Select	NP_001254479.2:p.Thr10625=
NM_003319.4:c.13283-47250A>G	NP_003310.4:n.13283-47250A>G
NM_133378.4:c.28143A>G	NP_596869.4:p.Thr9381=
NM_133432.3:c.13658-47250A>G	NP_597676.3:n.13658-47250A>G
NM_133437.4:c.13859-47250A>G	NP_597681.4:n.13859-47250A>G
XM_011511729.1:c.30972A>G	XP_011510031.1:p.Thr10324=
XM_011511730.1:c.13469-47250A>G	XP_011510032.1:n.13469-47250A>G
XM_011511731.1:c.13328-47250A>G	XP_011510033.1:n.13328-47250A>G
XM_017004819.1:c.30927A>G	XP_016860308.1:p.Thr10309=
XM_017004820.1:c.28146A>G	XP_016860309.1:p.Thr9382=
XM_017004821.1:c.28143A>G	XP_016860310.1:p.Thr9381=
XM_017004822.1:c.30927A>G	XP_016860311.1:p.Thr10309=
XM_017004823.1:c.13424-47250A>G	XP_016860312.1:n.13424-47250A>G
XM_024453094.1:c.30927A>G	XP_024308862.1:p.Thr10309=
XM_024453095.1:c.30927A>G	XP_024308863.1:p.Thr10309=
XM_024453096.1:c.30927A>G	XP_024308864.1:p.Thr10309=
XM_024453097.1:c.30898+246A>G	XP_024308865.1:n.30898+246A>G
XM_024453098.1:c.30898+246A>G	XP_024308866.1:n.30898+246A>G
XM_024453099.1:c.13424-47250A>G	XP_024308867.1:n.13424-47250A>G