Canonical Allele Identifier: CA10588325

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 265437
• ClinVar RCV Id: RCV000256162 ; RCV001265557 ; RCV001256713 ; RCV001859481 ; RCV002347971
• dbSNP Id: rs869038795
• gnomAD v4: 2-178565095-G-A
• COSMIC: COSM1402071 ; COSM1402072 ; COSM1402073 ; COSM1402074
• MyVariant Identifiers: chr2:g.179429822G>A (hg19) ; chr2:g.178565095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178565095G>A , CM000664.2:g.178565095G>A	GRCh38
NC_000002.11:g.179429822G>A , CM000664.1:g.179429822G>A	GRCh37
NC_000002.10:g.179138068G>A	NCBI36
NG_011618.3:g.270708C>T , LRG_391:g.270708C>T
NG_051363.1:g.47269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.73333C>T (TTN)	ENSP00000343764.6:p.Arg24445Ter
ENST00000342175.11:c.54418C>T (TTN)	ENSP00000340554.6:p.Arg18140Ter
ENST00000359218.10:c.54217C>T (TTN)	ENSP00000352154.5:p.Arg18073Ter
ENST00000342175.10:c.54418C>T (TTN)	ENSP00000340554.6:p.Arg18140Ter
ENST00000342992.10:c.73333C>T (TTN)	ENSP00000343764.6:p.Arg24445Ter
ENST00000359218.9:c.54217C>T (TTN)	ENSP00000352154.5:p.Arg18073Ter
ENST00000460472.6:c.53842C>T (TTN)	ENSP00000434586.1:p.Arg17948Ter
ENST00000589042.5:c.81037C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg27013Ter
ENST00000591111.5:c.76114C>T (TTN)	ENSP00000465570.1:p.Arg25372Ter
ENST00000615779.4:c.76114C>T (TTN)	ENSP00000483597.1:p.Arg25372Ter
NM_001256850.1:c.76114C>T (TTN)	NP_001243779.1:p.Arg25372Ter
NM_001267550.2:c.81037C>T (TTN) MANE Select	NP_001254479.2:p.Arg27013Ter
NM_003319.4:c.53842C>T (TTN)	NP_003310.4:p.Arg17948Ter
NM_133378.4:c.73333C>T (TTN)	NP_596869.4:p.Arg24445Ter
NM_133432.3:c.54217C>T (TTN)	NP_597676.3:p.Arg18073Ter
NM_133437.4:c.54418C>T (TTN)	NP_597681.4:p.Arg18140Ter
NR_038271.1:n.447-6205G>A (TTN-AS1)
NR_038272.1:n.2044-17477G>A (TTN-AS1)
XM_011511729.1:c.80134C>T (TTN)	XP_011510031.1:p.Arg26712Ter
XM_011511730.1:c.54028C>T (TTN)	XP_011510032.1:p.Arg18010Ter
XM_011511731.1:c.53887C>T (TTN)	XP_011510033.1:p.Arg17963Ter
XM_017004819.1:c.79930C>T (TTN)	XP_016860308.1:p.Arg26644Ter
XM_017004820.1:c.75328C>T (TTN)	XP_016860309.1:p.Arg25110Ter
XM_017004821.1:c.75325C>T (TTN)	XP_016860310.1:p.Arg25109Ter
XM_017004822.1:c.72367C>T (TTN)	XP_016860311.1:p.Arg24123Ter
XM_017004823.1:c.53983C>T (TTN)	XP_016860312.1:p.Arg17995Ter
XM_024453094.1:c.75478C>T (TTN)	XP_024308862.1:p.Arg25160Ter
XM_024453095.1:c.75475C>T (TTN)	XP_024308863.1:p.Arg25159Ter
XM_024453096.1:c.74908C>T (TTN)	XP_024308864.1:p.Arg24970Ter
XM_024453097.1:c.72250C>T (TTN)	XP_024308865.1:p.Arg24084Ter
XM_024453098.1:c.72169C>T (TTN)	XP_024308866.1:p.Arg24057Ter
XM_024453099.1:c.53932C>T (TTN)	XP_024308867.1:p.Arg17978Ter
XM_024453100.1:c.43786C>T (TTN)	XP_024308868.1:p.Arg14596Ter