Canonical Allele Identifier: CA1998765

Gene: TTN

Linked Data

• ClinVar Variation Id: 228081
• ClinVar RCV Id: RCV000215814 ; RCV000463757 ; RCV003137806
• dbSNP Id: rs766003250
• ExAC: 2:179553855 G / C
• gnomAD v2: 2-179553855-G-C
• gnomAD v3: 2-178689128-G-C
• gnomAD v4: 2-178689128-G-C
• COSMIC: COSM2904381 ; COSM2904382
• MyVariant Identifiers: chr2:g.179553855G>C (hg19) ; chr2:g.178689128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178689128G>C , CM000664.2:g.178689128G>C	GRCh38
NC_000002.11:g.179553855G>C , CM000664.1:g.179553855G>C	GRCh37
NC_000002.10:g.179262100G>C	NCBI36
NG_011618.3:g.146675C>G , LRG_391:g.146675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.28288C>G	ENSP00000343764.6:p.Leu9430Val
ENST00000342175.11:c.13859-46811C>G	ENSP00000340554.6:n.13859-46811C>G
ENST00000359218.10:c.13658-46811C>G	ENSP00000352154.5:n.13658-46811C>G
ENST00000342175.10:c.13859-46811C>G	ENSP00000340554.6:n.13859-46811C>G
ENST00000342992.10:c.28288C>G	ENSP00000343764.6:p.Leu9430Val
ENST00000359218.9:c.13658-46811C>G	ENSP00000352154.5:n.13658-46811C>G
ENST00000414766.5:c.1654C>G	ENSP00000401501.1:p.Leu552Val
ENST00000460472.6:c.13283-46811C>G	ENSP00000434586.1:n.13283-46811C>G
ENST00000589042.5:c.32020C>G MANE Select	ENSP00000467141.1:p.Leu10674Val
ENST00000591111.5:c.31069C>G	ENSP00000465570.1:p.Leu10357Val
ENST00000615779.4:c.31069C>G	ENSP00000483597.1:p.Leu10357Val
NM_001256850.1:c.31069C>G	NP_001243779.1:p.Leu10357Val
NM_001267550.2:c.32020C>G MANE Select	NP_001254479.2:p.Leu10674Val
NM_003319.4:c.13283-46811C>G	NP_003310.4:n.13283-46811C>G
NM_133378.4:c.28288C>G	NP_596869.4:p.Leu9430Val
NM_133432.3:c.13658-46811C>G	NP_597676.3:n.13658-46811C>G
NM_133437.4:c.13859-46811C>G	NP_597681.4:n.13859-46811C>G
XM_011511729.1:c.31117C>G	XP_011510031.1:p.Leu10373Val
XM_011511730.1:c.13469-46811C>G	XP_011510032.1:n.13469-46811C>G
XM_011511731.1:c.13328-46811C>G	XP_011510033.1:n.13328-46811C>G
XM_017004819.1:c.31072C>G	XP_016860308.1:p.Leu10358Val
XM_017004820.1:c.28291C>G	XP_016860309.1:p.Leu9431Val
XM_017004821.1:c.28288C>G	XP_016860310.1:p.Leu9430Val
XM_017004822.1:c.31072C>G	XP_016860311.1:p.Leu10358Val
XM_017004823.1:c.13424-46811C>G	XP_016860312.1:n.13424-46811C>G
XM_024453094.1:c.31072C>G	XP_024308862.1:p.Leu10358Val
XM_024453095.1:c.31072C>G	XP_024308863.1:p.Leu10358Val
XM_024453096.1:c.31072C>G	XP_024308864.1:p.Leu10358Val
XM_024453097.1:c.30898+685C>G	XP_024308865.1:n.30898+685C>G
XM_024453098.1:c.30898+685C>G	XP_024308866.1:n.30898+685C>G
XM_024453099.1:c.13424-46811C>G	XP_024308867.1:n.13424-46811C>G