Canonical Allele Identifier: CA309251

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202382
• ClinVar RCV Id: RCV000184229 ; RCV000805800
• dbSNP Id: rs794729268
• MyVariant Identifiers: chr2:g.179475996T>A (hg19) ; chr2:g.178611269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178611269T>A , CM000664.2:g.178611269T>A	GRCh38
NC_000002.11:g.179475996T>A , CM000664.1:g.179475996T>A	GRCh37
NC_000002.10:g.179184241T>A	NCBI36
NG_011618.3:g.224534A>T , LRG_391:g.224534A>T
NG_051363.1:g.93443T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.43156A>T (TTN)	ENSP00000343764.6:p.Lys14386Ter
ENST00000342175.11:c.24241A>T (TTN)	ENSP00000340554.6:p.Lys8081Ter
ENST00000359218.10:c.24040A>T (TTN)	ENSP00000352154.5:p.Lys8014Ter
ENST00000342175.10:c.24241A>T (TTN)	ENSP00000340554.6:p.Lys8081Ter
ENST00000342992.10:c.43156A>T (TTN)	ENSP00000343764.6:p.Lys14386Ter
ENST00000359218.9:c.24040A>T (TTN)	ENSP00000352154.5:p.Lys8014Ter
ENST00000460472.6:c.23665A>T (TTN)	ENSP00000434586.1:p.Lys7889Ter
ENST00000589042.5:c.50860A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys16954Ter
ENST00000591111.5:c.45937A>T (TTN)	ENSP00000465570.1:p.Lys15313Ter
ENST00000615779.4:c.45937A>T (TTN)	ENSP00000483597.1:p.Lys15313Ter
NM_001256850.1:c.45937A>T (TTN)	NP_001243779.1:p.Lys15313Ter
NM_001267550.2:c.50860A>T (TTN) MANE Select	NP_001254479.2:p.Lys16954Ter
NM_003319.4:c.23665A>T (TTN)	NP_003310.4:p.Lys7889Ter
NM_133378.4:c.43156A>T (TTN)	NP_596869.4:p.Lys14386Ter
NM_133432.3:c.24040A>T (TTN)	NP_597676.3:p.Lys8014Ter
NM_133437.4:c.24241A>T (TTN)	NP_597681.4:p.Lys8081Ter
NR_038271.1:n.783-2766T>A (TTN-AS1)
XM_011511729.1:c.49957A>T (TTN)	XP_011510031.1:p.Lys16653Ter
XM_011511730.1:c.23851A>T (TTN)	XP_011510032.1:p.Lys7951Ter
XM_011511731.1:c.23710A>T (TTN)	XP_011510033.1:p.Lys7904Ter
XM_017004819.1:c.49753A>T (TTN)	XP_016860308.1:p.Lys16585Ter
XM_017004820.1:c.45151A>T (TTN)	XP_016860309.1:p.Lys15051Ter
XM_017004821.1:c.45148A>T (TTN)	XP_016860310.1:p.Lys15050Ter
XM_017004822.1:c.42190A>T (TTN)	XP_016860311.1:p.Lys14064Ter
XM_017004823.1:c.23806A>T (TTN)	XP_016860312.1:p.Lys7936Ter
XM_024453094.1:c.45301A>T (TTN)	XP_024308862.1:p.Lys15101Ter
XM_024453095.1:c.45298A>T (TTN)	XP_024308863.1:p.Lys15100Ter
XM_024453096.1:c.44731A>T (TTN)	XP_024308864.1:p.Lys14911Ter
XM_024453097.1:c.42073A>T (TTN)	XP_024308865.1:p.Lys14025Ter
XM_024453098.1:c.41992A>T (TTN)	XP_024308866.1:p.Lys13998Ter
XM_024453099.1:c.23755A>T (TTN)	XP_024308867.1:p.Lys7919Ter
XM_024453100.1:c.13609A>T (TTN)	XP_024308868.1:p.Lys4537Ter