Canonical Allele Identifier: CA16602263

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 242424
• ClinVar RCV Id: RCV000424753 ; RCV000787942 ; RCV001063221 ; RCV003362735
• dbSNP Id: rs543860009
• gnomAD v4: 2-178589003-G-A
• MyVariant Identifiers: chr2:g.179453730G>A (hg19) ; chr2:g.178589003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589003G>A , CM000664.2:g.178589003G>A	GRCh38
NC_000002.11:g.179453730G>A , CM000664.1:g.179453730G>A	GRCh37
NC_000002.10:g.179161976G>A	NCBI36
NG_011618.3:g.246800C>T , LRG_391:g.246800C>T
NG_051363.1:g.71177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.55018C>T (TTN)	ENSP00000343764.6:p.Arg18340Ter
ENST00000342175.11:c.36103C>T (TTN)	ENSP00000340554.6:p.Arg12035Ter
ENST00000359218.10:c.35902C>T (TTN)	ENSP00000352154.5:p.Arg11968Ter
ENST00000342175.10:c.36103C>T (TTN)	ENSP00000340554.6:p.Arg12035Ter
ENST00000342992.10:c.55018C>T (TTN)	ENSP00000343764.6:p.Arg18340Ter
ENST00000359218.9:c.35902C>T (TTN)	ENSP00000352154.5:p.Arg11968Ter
ENST00000460472.6:c.35527C>T (TTN)	ENSP00000434586.1:p.Arg11843Ter
ENST00000589042.5:c.62722C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg20908Ter
ENST00000591111.5:c.57799C>T (TTN)	ENSP00000465570.1:p.Arg19267Ter
ENST00000615779.4:c.57799C>T (TTN)	ENSP00000483597.1:p.Arg19267Ter
NM_001256850.1:c.57799C>T (TTN)	NP_001243779.1:p.Arg19267Ter
NM_001267550.2:c.62722C>T (TTN) MANE Select	NP_001254479.2:p.Arg20908Ter
NM_003319.4:c.35527C>T (TTN)	NP_003310.4:p.Arg11843Ter
NM_133378.4:c.55018C>T (TTN)	NP_596869.4:p.Arg18340Ter
NM_133432.3:c.35902C>T (TTN)	NP_597676.3:p.Arg11968Ter
NM_133437.4:c.36103C>T (TTN)	NP_597681.4:p.Arg12035Ter
NR_038271.1:n.597-8593G>A (TTN-AS1)
NR_038272.1:n.3189-2136G>A (TTN-AS1)
XM_011511729.1:c.61819C>T (TTN)	XP_011510031.1:p.Arg20607Ter
XM_011511730.1:c.35713C>T (TTN)	XP_011510032.1:p.Arg11905Ter
XM_011511731.1:c.35572C>T (TTN)	XP_011510033.1:p.Arg11858Ter
XM_017004819.1:c.61615C>T (TTN)	XP_016860308.1:p.Arg20539Ter
XM_017004820.1:c.57013C>T (TTN)	XP_016860309.1:p.Arg19005Ter
XM_017004821.1:c.57010C>T (TTN)	XP_016860310.1:p.Arg19004Ter
XM_017004822.1:c.54052C>T (TTN)	XP_016860311.1:p.Arg18018Ter
XM_017004823.1:c.35668C>T (TTN)	XP_016860312.1:p.Arg11890Ter
XM_024453094.1:c.57163C>T (TTN)	XP_024308862.1:p.Arg19055Ter
XM_024453095.1:c.57160C>T (TTN)	XP_024308863.1:p.Arg19054Ter
XM_024453096.1:c.56593C>T (TTN)	XP_024308864.1:p.Arg18865Ter
XM_024453097.1:c.53935C>T (TTN)	XP_024308865.1:p.Arg17979Ter
XM_024453098.1:c.53854C>T (TTN)	XP_024308866.1:p.Arg17952Ter
XM_024453099.1:c.35617C>T (TTN)	XP_024308867.1:p.Arg11873Ter
XM_024453100.1:c.25471C>T (TTN)	XP_024308868.1:p.Arg8491Ter