Canonical Allele Identifier: CA352019

Gene: TTN

Linked Data

• ClinVar Variation Id: 222867
• ClinVar RCV Id: RCV000208417
• dbSNP Id: rs869025548
• MyVariant Identifiers: chr2:g.179485354T>C (hg19) ; chr2:g.178620627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178620627T>C , CM000664.2:g.178620627T>C	GRCh38
NC_000002.11:g.179485354T>C , CM000664.1:g.179485354T>C	GRCh37
NC_000002.10:g.179193599T>C	NCBI36
NG_011618.3:g.215176A>G , LRG_391:g.215176A>G
NG_051363.1:g.102801T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.38192-2A>G	ENSP00000343764.6:n.38192-2A>G
ENST00000342175.11:c.19277-2A>G	ENSP00000340554.6:n.19277-2A>G
ENST00000359218.10:c.19076-2A>G	ENSP00000352154.5:n.19076-2A>G
ENST00000342175.10:c.19277-2A>G	ENSP00000340554.6:n.19277-2A>G
ENST00000342992.10:c.38192-2A>G	ENSP00000343764.6:n.38192-2A>G
ENST00000359218.9:c.19076-2A>G	ENSP00000352154.5:n.19076-2A>G
ENST00000460472.6:c.18701-2A>G	ENSP00000434586.1:n.18701-2A>G
ENST00000589042.5:c.45896-2A>G MANE Select	ENSP00000467141.1:n.45896-2A>G
ENST00000591111.5:c.40973-2A>G	ENSP00000465570.1:n.40973-2A>G
ENST00000615779.4:c.40973-2A>G	ENSP00000483597.1:n.40973-2A>G
NM_001256850.1:c.40973-2A>G	NP_001243779.1:n.40973-2A>G
NM_001267550.2:c.45896-2A>G MANE Select	NP_001254479.2:n.45896-2A>G
NM_003319.4:c.18701-2A>G	NP_003310.4:n.18701-2A>G
NM_133378.4:c.38192-2A>G	NP_596869.4:n.38192-2A>G
NM_133432.3:c.19076-2A>G	NP_597676.3:n.19076-2A>G
NM_133437.4:c.19277-2A>G	NP_597681.4:n.19277-2A>G
XM_011511729.1:c.44993-2A>G	XP_011510031.1:n.44993-2A>G
XM_011511730.1:c.18887-2A>G	XP_011510032.1:n.18887-2A>G
XM_011511731.1:c.18746-2A>G	XP_011510033.1:n.18746-2A>G
XM_017004819.1:c.44789-2A>G	XP_016860308.1:n.44789-2A>G
XM_017004820.1:c.40187-2A>G	XP_016860309.1:n.40187-2A>G
XM_017004821.1:c.40184-2A>G	XP_016860310.1:n.40184-2A>G
XM_017004822.1:c.37226-2A>G	XP_016860311.1:n.37226-2A>G
XM_017004823.1:c.18842-2A>G	XP_016860312.1:n.18842-2A>G
XM_024453094.1:c.40337-2A>G	XP_024308862.1:n.40337-2A>G
XM_024453095.1:c.40334-2A>G	XP_024308863.1:n.40334-2A>G
XM_024453096.1:c.39767-2A>G	XP_024308864.1:n.39767-2A>G
XM_024453097.1:c.37109-2A>G	XP_024308865.1:n.37109-2A>G
XM_024453098.1:c.37028-2A>G	XP_024308866.1:n.37028-2A>G
XM_024453099.1:c.18791-2A>G	XP_024308867.1:n.18791-2A>G
XM_024453100.1:c.8645-2A>G	XP_024308868.1:n.8645-2A>G