Canonical Allele Identifier: CA10581841

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 238846
• ClinVar RCV Id: RCV000230707 ; RCV001256714 ; RCV002338719 ; RCV003225049
• dbSNP Id: rs767450912
• gnomAD v4: 2-178569415-G-A
• MyVariant Identifiers: chr2:g.179434142G>A (hg19) ; chr2:g.178569415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569415G>A , CM000664.2:g.178569415G>A	GRCh38
NC_000002.11:g.179434142G>A , CM000664.1:g.179434142G>A	GRCh37
NC_000002.10:g.179142388G>A	NCBI36
NG_011618.3:g.266388C>T , LRG_391:g.266388C>T
NG_051363.1:g.51589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69013C>T (TTN)	ENSP00000343764.6:p.Arg23005Ter
ENST00000342175.11:c.50098C>T (TTN)	ENSP00000340554.6:p.Arg16700Ter
ENST00000359218.10:c.49897C>T (TTN)	ENSP00000352154.5:p.Arg16633Ter
ENST00000342175.10:c.50098C>T (TTN)	ENSP00000340554.6:p.Arg16700Ter
ENST00000342992.10:c.69013C>T (TTN)	ENSP00000343764.6:p.Arg23005Ter
ENST00000359218.9:c.49897C>T (TTN)	ENSP00000352154.5:p.Arg16633Ter
ENST00000460472.6:c.49522C>T (TTN)	ENSP00000434586.1:p.Arg16508Ter
ENST00000589042.5:c.76717C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg25573Ter
ENST00000591111.5:c.71794C>T (TTN)	ENSP00000465570.1:p.Arg23932Ter
ENST00000615779.4:c.71794C>T (TTN)	ENSP00000483597.1:p.Arg23932Ter
NM_001256850.1:c.71794C>T (TTN)	NP_001243779.1:p.Arg23932Ter
NM_001267550.2:c.76717C>T (TTN) MANE Select	NP_001254479.2:p.Arg25573Ter
NM_003319.4:c.49522C>T (TTN)	NP_003310.4:p.Arg16508Ter
NM_133378.4:c.69013C>T (TTN)	NP_596869.4:p.Arg23005Ter
NM_133432.3:c.49897C>T (TTN)	NP_597676.3:p.Arg16633Ter
NM_133437.4:c.50098C>T (TTN)	NP_597681.4:p.Arg16700Ter
NR_038271.1:n.447-1885G>A (TTN-AS1)
NR_038272.1:n.2044-13157G>A (TTN-AS1)
XM_011511729.1:c.75814C>T (TTN)	XP_011510031.1:p.Arg25272Ter
XM_011511730.1:c.49708C>T (TTN)	XP_011510032.1:p.Arg16570Ter
XM_011511731.1:c.49567C>T (TTN)	XP_011510033.1:p.Arg16523Ter
XM_017004819.1:c.75610C>T (TTN)	XP_016860308.1:p.Arg25204Ter
XM_017004820.1:c.71008C>T (TTN)	XP_016860309.1:p.Arg23670Ter
XM_017004821.1:c.71005C>T (TTN)	XP_016860310.1:p.Arg23669Ter
XM_017004822.1:c.68047C>T (TTN)	XP_016860311.1:p.Arg22683Ter
XM_017004823.1:c.49663C>T (TTN)	XP_016860312.1:p.Arg16555Ter
XM_024453094.1:c.71158C>T (TTN)	XP_024308862.1:p.Arg23720Ter
XM_024453095.1:c.71155C>T (TTN)	XP_024308863.1:p.Arg23719Ter
XM_024453096.1:c.70588C>T (TTN)	XP_024308864.1:p.Arg23530Ter
XM_024453097.1:c.67930C>T (TTN)	XP_024308865.1:p.Arg22644Ter
XM_024453098.1:c.67849C>T (TTN)	XP_024308866.1:p.Arg22617Ter
XM_024453099.1:c.49612C>T (TTN)	XP_024308867.1:p.Arg16538Ter
XM_024453100.1:c.39466C>T (TTN)	XP_024308868.1:p.Arg13156Ter