Canonical Allele Identifier: CA090110

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 223315
• ClinVar RCV Id: RCV000209173
• dbSNP Id: rs768345594
• ExAC: 2:179450018 G / A
• gnomAD v2: 2-179450018-G-A
• gnomAD v4: 2-178585291-G-A
• COSMIC: COSM5922268 ; COSM5922269 ; COSM5922270 ; COSM5922271
• MyVariant Identifiers: chr2:g.179450018G>A (hg19) ; chr2:g.178585291G>A (hg38)
• PubMed: PMID:25589632

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178585291G>A , CM000664.2:g.178585291G>A	GRCh38
NC_000002.11:g.179450018G>A , CM000664.1:g.179450018G>A	GRCh37
NC_000002.10:g.179158264G>A	NCBI36
NG_011618.3:g.250512C>T , LRG_391:g.250512C>T
NG_051363.1:g.67465G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.56749C>T (TTN)	ENSP00000343764.6:p.Arg18917Ter
ENST00000342175.11:c.37834C>T (TTN)	ENSP00000340554.6:p.Arg12612Ter
ENST00000359218.10:c.37633C>T (TTN)	ENSP00000352154.5:p.Arg12545Ter
ENST00000342175.10:c.37834C>T (TTN)	ENSP00000340554.6:p.Arg12612Ter
ENST00000342992.10:c.56749C>T (TTN)	ENSP00000343764.6:p.Arg18917Ter
ENST00000359218.9:c.37633C>T (TTN)	ENSP00000352154.5:p.Arg12545Ter
ENST00000460472.6:c.37258C>T (TTN)	ENSP00000434586.1:p.Arg12420Ter
ENST00000589042.5:c.64453C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg21485Ter
ENST00000591111.5:c.59530C>T (TTN)	ENSP00000465570.1:p.Arg19844Ter
ENST00000615779.4:c.59530C>T (TTN)	ENSP00000483597.1:p.Arg19844Ter
NM_001256850.1:c.59530C>T (TTN)	NP_001243779.1:p.Arg19844Ter
NM_001267550.2:c.64453C>T (TTN) MANE Select	NP_001254479.2:p.Arg21485Ter
NM_003319.4:c.37258C>T (TTN)	NP_003310.4:p.Arg12420Ter
NM_133378.4:c.56749C>T (TTN)	NP_596869.4:p.Arg18917Ter
NM_133432.3:c.37633C>T (TTN)	NP_597676.3:p.Arg12545Ter
NM_133437.4:c.37834C>T (TTN)	NP_597681.4:p.Arg12612Ter
NR_038271.1:n.597-12305G>A (TTN-AS1)
NR_038272.1:n.3188+298G>A (TTN-AS1)
XM_011511729.1:c.63550C>T (TTN)	XP_011510031.1:p.Arg21184Ter
XM_011511730.1:c.37444C>T (TTN)	XP_011510032.1:p.Arg12482Ter
XM_011511731.1:c.37303C>T (TTN)	XP_011510033.1:p.Arg12435Ter
XM_017004819.1:c.63346C>T (TTN)	XP_016860308.1:p.Arg21116Ter
XM_017004820.1:c.58744C>T (TTN)	XP_016860309.1:p.Arg19582Ter
XM_017004821.1:c.58741C>T (TTN)	XP_016860310.1:p.Arg19581Ter
XM_017004822.1:c.55783C>T (TTN)	XP_016860311.1:p.Arg18595Ter
XM_017004823.1:c.37399C>T (TTN)	XP_016860312.1:p.Arg12467Ter
XM_024453094.1:c.58894C>T (TTN)	XP_024308862.1:p.Arg19632Ter
XM_024453095.1:c.58891C>T (TTN)	XP_024308863.1:p.Arg19631Ter
XM_024453096.1:c.58324C>T (TTN)	XP_024308864.1:p.Arg19442Ter
XM_024453097.1:c.55666C>T (TTN)	XP_024308865.1:p.Arg18556Ter
XM_024453098.1:c.55585C>T (TTN)	XP_024308866.1:p.Arg18529Ter
XM_024453099.1:c.37348C>T (TTN)	XP_024308867.1:p.Arg12450Ter
XM_024453100.1:c.27202C>T (TTN)	XP_024308868.1:p.Arg9068Ter