Canonical Allele Identifier: CA349552817

Gene: TTN

Linked Data

• ClinVar Variation Id: 467012
• ClinVar RCV Id: RCV000531390
• dbSNP Id: rs771054923
• MyVariant Identifiers: chr2:g.179553412C>G (hg19) ; chr2:g.178688685C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178688685C>G , CM000664.2:g.178688685C>G	GRCh38
NC_000002.11:g.179553412C>G , CM000664.1:g.179553412C>G	GRCh37
NC_000002.10:g.179261657C>G	NCBI36
NG_011618.3:g.147118G>C , LRG_391:g.147118G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.28457G>C	ENSP00000343764.6:p.Arg9486Pro
ENST00000342175.11:c.13859-46368G>C	ENSP00000340554.6:n.13859-46368G>C
ENST00000359218.10:c.13658-46368G>C	ENSP00000352154.5:n.13658-46368G>C
ENST00000342175.10:c.13859-46368G>C	ENSP00000340554.6:n.13859-46368G>C
ENST00000342992.10:c.28457G>C	ENSP00000343764.6:p.Arg9486Pro
ENST00000359218.9:c.13658-46368G>C	ENSP00000352154.5:n.13658-46368G>C
ENST00000414766.5:c.1729+368G>C	ENSP00000401501.1:n.1729+368G>C
ENST00000460472.6:c.13283-46368G>C	ENSP00000434586.1:n.13283-46368G>C
ENST00000589042.5:c.32189G>C MANE Select	ENSP00000467141.1:p.Arg10730Pro
ENST00000591111.5:c.31238G>C	ENSP00000465570.1:p.Arg10413Pro
ENST00000615779.4:c.31238G>C	ENSP00000483597.1:p.Arg10413Pro
NM_001256850.1:c.31238G>C	NP_001243779.1:p.Arg10413Pro
NM_001267550.2:c.32189G>C MANE Select	NP_001254479.2:p.Arg10730Pro
NM_003319.4:c.13283-46368G>C	NP_003310.4:n.13283-46368G>C
NM_133378.4:c.28457G>C	NP_596869.4:p.Arg9486Pro
NM_133432.3:c.13658-46368G>C	NP_597676.3:n.13658-46368G>C
NM_133437.4:c.13859-46368G>C	NP_597681.4:n.13859-46368G>C
XM_011511729.1:c.31286G>C	XP_011510031.1:p.Arg10429Pro
XM_011511730.1:c.13469-46368G>C	XP_011510032.1:n.13469-46368G>C
XM_011511731.1:c.13328-46368G>C	XP_011510033.1:n.13328-46368G>C
XM_017004819.1:c.31241G>C	XP_016860308.1:p.Arg10414Pro
XM_017004820.1:c.28460G>C	XP_016860309.1:p.Arg9487Pro
XM_017004821.1:c.28457G>C	XP_016860310.1:p.Arg9486Pro
XM_017004822.1:c.31147+368G>C	XP_016860311.1:n.31147+368G>C
XM_017004823.1:c.13424-46368G>C	XP_016860312.1:n.13424-46368G>C
XM_024453094.1:c.31241G>C	XP_024308862.1:p.Arg10414Pro
XM_024453095.1:c.31241G>C	XP_024308863.1:p.Arg10414Pro
XM_024453096.1:c.31241G>C	XP_024308864.1:p.Arg10414Pro
XM_024453097.1:c.30898+1128G>C	XP_024308865.1:n.30898+1128G>C
XM_024453098.1:c.30898+1128G>C	XP_024308866.1:n.30898+1128G>C
XM_024453099.1:c.13424-46368G>C	XP_024308867.1:n.13424-46368G>C