Canonical Allele Identifier: CA349501189

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466646
• ClinVar RCV Id: RCV000527865 ; RCV001594397 ; RCV001093060 ; RCV002323980
• dbSNP Id: rs1553649171
• gnomAD v4: 2-178593338-G-A
• MyVariant Identifiers: chr2:g.179458065G>A (hg19) ; chr2:g.178593338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593338G>A , CM000664.2:g.178593338G>A	GRCh38
NC_000002.11:g.179458065G>A , CM000664.1:g.179458065G>A	GRCh37
NC_000002.10:g.179166311G>A	NCBI36
NG_011618.3:g.242465C>T , LRG_391:g.242465C>T
NG_051363.1:g.75512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51166C>T (TTN)	ENSP00000343764.6:p.Arg17056Ter
ENST00000342175.11:c.32251C>T (TTN)	ENSP00000340554.6:p.Arg10751Ter
ENST00000359218.10:c.32050C>T (TTN)	ENSP00000352154.5:p.Arg10684Ter
ENST00000342175.10:c.32251C>T (TTN)	ENSP00000340554.6:p.Arg10751Ter
ENST00000342992.10:c.51166C>T (TTN)	ENSP00000343764.6:p.Arg17056Ter
ENST00000359218.9:c.32050C>T (TTN)	ENSP00000352154.5:p.Arg10684Ter
ENST00000460472.6:c.31675C>T (TTN)	ENSP00000434586.1:p.Arg10559Ter
ENST00000589042.5:c.58870C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg19624Ter
ENST00000591111.5:c.53947C>T (TTN)	ENSP00000465570.1:p.Arg17983Ter
ENST00000615779.4:c.53947C>T (TTN)	ENSP00000483597.1:p.Arg17983Ter
NM_001256850.1:c.53947C>T (TTN)	NP_001243779.1:p.Arg17983Ter
NM_001267550.2:c.58870C>T (TTN) MANE Select	NP_001254479.2:p.Arg19624Ter
NM_003319.4:c.31675C>T (TTN)	NP_003310.4:p.Arg10559Ter
NM_133378.4:c.51166C>T (TTN)	NP_596869.4:p.Arg17056Ter
NM_133432.3:c.32050C>T (TTN)	NP_597676.3:p.Arg10684Ter
NM_133437.4:c.32251C>T (TTN)	NP_597681.4:p.Arg10751Ter
NR_038271.1:n.597-4258G>A (TTN-AS1)
NR_038272.1:n.3364+2024G>A (TTN-AS1)
XM_011511729.1:c.57967C>T (TTN)	XP_011510031.1:p.Arg19323Ter
XM_011511730.1:c.31861C>T (TTN)	XP_011510032.1:p.Arg10621Ter
XM_011511731.1:c.31720C>T (TTN)	XP_011510033.1:p.Arg10574Ter
XM_017004819.1:c.57763C>T (TTN)	XP_016860308.1:p.Arg19255Ter
XM_017004820.1:c.53161C>T (TTN)	XP_016860309.1:p.Arg17721Ter
XM_017004821.1:c.53158C>T (TTN)	XP_016860310.1:p.Arg17720Ter
XM_017004822.1:c.50200C>T (TTN)	XP_016860311.1:p.Arg16734Ter
XM_017004823.1:c.31816C>T (TTN)	XP_016860312.1:p.Arg10606Ter
XM_024453094.1:c.53311C>T (TTN)	XP_024308862.1:p.Arg17771Ter
XM_024453095.1:c.53308C>T (TTN)	XP_024308863.1:p.Arg17770Ter
XM_024453096.1:c.52741C>T (TTN)	XP_024308864.1:p.Arg17581Ter
XM_024453097.1:c.50083C>T (TTN)	XP_024308865.1:p.Arg16695Ter
XM_024453098.1:c.50002C>T (TTN)	XP_024308866.1:p.Arg16668Ter
XM_024453099.1:c.31765C>T (TTN)	XP_024308867.1:p.Arg10589Ter
XM_024453100.1:c.21619C>T (TTN)	XP_024308868.1:p.Arg7207Ter