Canonical Allele Identifier: CA309238

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202377
• ClinVar RCV Id: RCV000184224 ; RCV000555213 ; RCV001170835 ; RCV001196220 ; RCV003362717
• dbSNP Id: rs751502842
• gnomAD v4: 2-178612442-G-A
• COSMIC: COSM5765179 ; COSM5765180 ; COSM5765181 ; COSM5765182
• MyVariant Identifiers: chr2:g.179477169G>A (hg19) ; chr2:g.178612442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178612442G>A , CM000664.2:g.178612442G>A	GRCh38
NC_000002.11:g.179477169G>A , CM000664.1:g.179477169G>A	GRCh37
NC_000002.10:g.179185414G>A	NCBI36
NG_011618.3:g.223361C>T , LRG_391:g.223361C>T
NG_051363.1:g.94616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.42379C>T (TTN)	ENSP00000343764.6:p.Arg14127Ter
ENST00000342175.11:c.23464C>T (TTN)	ENSP00000340554.6:p.Arg7822Ter
ENST00000359218.10:c.23263C>T (TTN)	ENSP00000352154.5:p.Arg7755Ter
ENST00000342175.10:c.23464C>T (TTN)	ENSP00000340554.6:p.Arg7822Ter
ENST00000342992.10:c.42379C>T (TTN)	ENSP00000343764.6:p.Arg14127Ter
ENST00000359218.9:c.23263C>T (TTN)	ENSP00000352154.5:p.Arg7755Ter
ENST00000460472.6:c.22888C>T (TTN)	ENSP00000434586.1:p.Arg7630Ter
ENST00000589042.5:c.50083C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg16695Ter
ENST00000591111.5:c.45160C>T (TTN)	ENSP00000465570.1:p.Arg15054Ter
ENST00000615779.4:c.45160C>T (TTN)	ENSP00000483597.1:p.Arg15054Ter
NM_001256850.1:c.45160C>T (TTN)	NP_001243779.1:p.Arg15054Ter
NM_001267550.2:c.50083C>T (TTN) MANE Select	NP_001254479.2:p.Arg16695Ter
NM_003319.4:c.22888C>T (TTN)	NP_003310.4:p.Arg7630Ter
NM_133378.4:c.42379C>T (TTN)	NP_596869.4:p.Arg14127Ter
NM_133432.3:c.23263C>T (TTN)	NP_597676.3:p.Arg7755Ter
NM_133437.4:c.23464C>T (TTN)	NP_597681.4:p.Arg7822Ter
NR_038271.1:n.783-1593G>A (TTN-AS1)
XM_011511729.1:c.49180C>T (TTN)	XP_011510031.1:p.Arg16394Ter
XM_011511730.1:c.23074C>T (TTN)	XP_011510032.1:p.Arg7692Ter
XM_011511731.1:c.22933C>T (TTN)	XP_011510033.1:p.Arg7645Ter
XM_017004819.1:c.48976C>T (TTN)	XP_016860308.1:p.Arg16326Ter
XM_017004820.1:c.44374C>T (TTN)	XP_016860309.1:p.Arg14792Ter
XM_017004821.1:c.44371C>T (TTN)	XP_016860310.1:p.Arg14791Ter
XM_017004822.1:c.41413C>T (TTN)	XP_016860311.1:p.Arg13805Ter
XM_017004823.1:c.23029C>T (TTN)	XP_016860312.1:p.Arg7677Ter
XM_024453094.1:c.44524C>T (TTN)	XP_024308862.1:p.Arg14842Ter
XM_024453095.1:c.44521C>T (TTN)	XP_024308863.1:p.Arg14841Ter
XM_024453096.1:c.43954C>T (TTN)	XP_024308864.1:p.Arg14652Ter
XM_024453097.1:c.41296C>T (TTN)	XP_024308865.1:p.Arg13766Ter
XM_024453098.1:c.41215C>T (TTN)	XP_024308866.1:p.Arg13739Ter
XM_024453099.1:c.22978C>T (TTN)	XP_024308867.1:p.Arg7660Ter
XM_024453100.1:c.12832C>T (TTN)	XP_024308868.1:p.Arg4278Ter