Canonical Allele Identifier: CA1998708

Gene: TTN

Linked Data

• ClinVar Variation Id: 405111
• ClinVar RCV Id: RCV000457604
• dbSNP Id: rs374348069
• ExAC: 2:179553407 C / T
• gnomAD v2: 2-179553407-C-T
• gnomAD v3: 2-178688680-C-T
• gnomAD v4: 2-178688680-C-T
• COSMIC: COSM3572996 ; COSM3572997
• MyVariant Identifiers: chr2:g.179553407C>T (hg19) ; chr2:g.178688680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178688680C>T , CM000664.2:g.178688680C>T	GRCh38
NC_000002.11:g.179553407C>T , CM000664.1:g.179553407C>T	GRCh37
NC_000002.10:g.179261652C>T	NCBI36
NG_011618.3:g.147123G>A , LRG_391:g.147123G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.28462G>A	ENSP00000343764.6:p.Glu9488Lys
ENST00000342175.11:c.13859-46363G>A	ENSP00000340554.6:n.13859-46363G>A
ENST00000359218.10:c.13658-46363G>A	ENSP00000352154.5:n.13658-46363G>A
ENST00000342175.10:c.13859-46363G>A	ENSP00000340554.6:n.13859-46363G>A
ENST00000342992.10:c.28462G>A	ENSP00000343764.6:p.Glu9488Lys
ENST00000359218.9:c.13658-46363G>A	ENSP00000352154.5:n.13658-46363G>A
ENST00000414766.5:c.1729+373G>A	ENSP00000401501.1:n.1729+373G>A
ENST00000460472.6:c.13283-46363G>A	ENSP00000434586.1:n.13283-46363G>A
ENST00000589042.5:c.32194G>A MANE Select	ENSP00000467141.1:p.Glu10732Lys
ENST00000591111.5:c.31243G>A	ENSP00000465570.1:p.Glu10415Lys
ENST00000615779.4:c.31243G>A	ENSP00000483597.1:p.Glu10415Lys
NM_001256850.1:c.31243G>A	NP_001243779.1:p.Glu10415Lys
NM_001267550.2:c.32194G>A MANE Select	NP_001254479.2:p.Glu10732Lys
NM_003319.4:c.13283-46363G>A	NP_003310.4:n.13283-46363G>A
NM_133378.4:c.28462G>A	NP_596869.4:p.Glu9488Lys
NM_133432.3:c.13658-46363G>A	NP_597676.3:n.13658-46363G>A
NM_133437.4:c.13859-46363G>A	NP_597681.4:n.13859-46363G>A
XM_011511729.1:c.31291G>A	XP_011510031.1:p.Glu10431Lys
XM_011511730.1:c.13469-46363G>A	XP_011510032.1:n.13469-46363G>A
XM_011511731.1:c.13328-46363G>A	XP_011510033.1:n.13328-46363G>A
XM_017004819.1:c.31246G>A	XP_016860308.1:p.Glu10416Lys
XM_017004820.1:c.28465G>A	XP_016860309.1:p.Glu9489Lys
XM_017004821.1:c.28462G>A	XP_016860310.1:p.Glu9488Lys
XM_017004822.1:c.31147+373G>A	XP_016860311.1:n.31147+373G>A
XM_017004823.1:c.13424-46363G>A	XP_016860312.1:n.13424-46363G>A
XM_024453094.1:c.31246G>A	XP_024308862.1:p.Glu10416Lys
XM_024453095.1:c.31246G>A	XP_024308863.1:p.Glu10416Lys
XM_024453096.1:c.31246G>A	XP_024308864.1:p.Glu10416Lys
XM_024453097.1:c.30898+1133G>A	XP_024308865.1:n.30898+1133G>A
XM_024453098.1:c.30898+1133G>A	XP_024308866.1:n.30898+1133G>A
XM_024453099.1:c.13424-46363G>A	XP_024308867.1:n.13424-46363G>A