Canonical Allele Identifier: CA273273

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 165985
• ClinVar RCV Id: RCV000152318 ; RCV000184237 ; RCV000622986 ; RCV000684992 ; RCV002453498 ; RCV003486679
• dbSNP Id: rs727503607
• gnomAD v4: 2-178605642-C-A
• MyVariant Identifiers: chr2:g.179470369C>A (hg19) ; chr2:g.178605642C>A (hg38)
• PubMed: PMID:22335739 ; PMID:24503780 ; PMID:25448463

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178605642C>A , CM000664.2:g.178605642C>A	GRCh38
NC_000002.11:g.179470369C>A , CM000664.1:g.179470369C>A	GRCh37
NC_000002.10:g.179178614C>A	NCBI36
NG_011618.3:g.230161G>T , LRG_391:g.230161G>T
NG_051363.1:g.87816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.45949G>T (TTN)	ENSP00000343764.6:p.Glu15317Ter
ENST00000342175.11:c.27034G>T (TTN)	ENSP00000340554.6:p.Glu9012Ter
ENST00000359218.10:c.26833G>T (TTN)	ENSP00000352154.5:p.Glu8945Ter
ENST00000342175.10:c.27034G>T (TTN)	ENSP00000340554.6:p.Glu9012Ter
ENST00000342992.10:c.45949G>T (TTN)	ENSP00000343764.6:p.Glu15317Ter
ENST00000359218.9:c.26833G>T (TTN)	ENSP00000352154.5:p.Glu8945Ter
ENST00000460472.6:c.26458G>T (TTN)	ENSP00000434586.1:p.Glu8820Ter
ENST00000589042.5:c.53653G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu17885Ter
ENST00000591111.5:c.48730G>T (TTN)	ENSP00000465570.1:p.Glu16244Ter
ENST00000615779.4:c.48730G>T (TTN)	ENSP00000483597.1:p.Glu16244Ter
NM_001256850.1:c.48730G>T (TTN)	NP_001243779.1:p.Glu16244Ter
NM_001267550.2:c.53653G>T (TTN) MANE Select	NP_001254479.2:p.Glu17885Ter
NM_003319.4:c.26458G>T (TTN)	NP_003310.4:p.Glu8820Ter
NM_133378.4:c.45949G>T (TTN)	NP_596869.4:p.Glu15317Ter
NM_133432.3:c.26833G>T (TTN)	NP_597676.3:p.Glu8945Ter
NM_133437.4:c.27034G>T (TTN)	NP_597681.4:p.Glu9012Ter
NR_038271.1:n.683-2525C>A (TTN-AS1)
XM_011511729.1:c.52750G>T (TTN)	XP_011510031.1:p.Glu17584Ter
XM_011511730.1:c.26644G>T (TTN)	XP_011510032.1:p.Glu8882Ter
XM_011511731.1:c.26503G>T (TTN)	XP_011510033.1:p.Glu8835Ter
XM_017004819.1:c.52546G>T (TTN)	XP_016860308.1:p.Glu17516Ter
XM_017004820.1:c.47944G>T (TTN)	XP_016860309.1:p.Glu15982Ter
XM_017004821.1:c.47941G>T (TTN)	XP_016860310.1:p.Glu15981Ter
XM_017004822.1:c.44983G>T (TTN)	XP_016860311.1:p.Glu14995Ter
XM_017004823.1:c.26599G>T (TTN)	XP_016860312.1:p.Glu8867Ter
XM_024453094.1:c.48094G>T (TTN)	XP_024308862.1:p.Glu16032Ter
XM_024453095.1:c.48091G>T (TTN)	XP_024308863.1:p.Glu16031Ter
XM_024453096.1:c.47524G>T (TTN)	XP_024308864.1:p.Glu15842Ter
XM_024453097.1:c.44866G>T (TTN)	XP_024308865.1:p.Glu14956Ter
XM_024453098.1:c.44785G>T (TTN)	XP_024308866.1:p.Glu14929Ter
XM_024453099.1:c.26548G>T (TTN)	XP_024308867.1:p.Glu8850Ter
XM_024453100.1:c.16402G>T (TTN)	XP_024308868.1:p.Glu5468Ter