Canonical Allele Identifier: CA2005858

Gene: TTN

Linked Data

• dbSNP Id: rs758555393
• ExAC: 2:179650625 CAGA / C
• gnomAD v2: 2-179650625-CAGA-C
• MyVariant Identifiers: chr2:g.179650626_179650628del (hg19) ; chr2:g.178785899_178785901del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178785901_178785903del , CM000664.2:g.178785901_178785903del	GRCh38
NC_000002.11:g.179650628_179650630del , CM000664.1:g.179650628_179650630del	GRCh37
NC_000002.10:g.179358873_179358875del	NCBI36
NG_011618.3:g.49902_49904del , LRG_391:g.49902_49904del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.2317_2319del	ENSP00000343764.6:p.Ser773del
ENST00000342175.11:c.2179_2181del	ENSP00000340554.6:p.Ser727del
ENST00000359218.10:c.2179_2181del	ENSP00000352154.5:p.Ser727del
ENST00000360870.10:c.2317_2319del MANE Plus Clinical	ENSP00000354117.4:p.Ser773del
ENST00000342175.10:c.2179_2181del	ENSP00000340554.6:p.Ser727del
ENST00000342992.10:c.2317_2319del	ENSP00000343764.6:p.Ser773del
ENST00000359218.9:c.2179_2181del	ENSP00000352154.5:p.Ser727del
ENST00000360870.9:c.2317_2319del	ENSP00000354117.4:p.Ser773del
ENST00000460472.6:c.2179_2181del	ENSP00000434586.1:p.Ser727del
ENST00000589042.5:c.2317_2319del MANE Select	ENSP00000467141.1:p.Ser773del
ENST00000591111.5:c.2317_2319del	ENSP00000465570.1:p.Ser773del
ENST00000615779.4:c.2317_2319del	ENSP00000483597.1:p.Ser773del
NM_001256850.1:c.2317_2319del	NP_001243779.1:p.Ser773del
NM_001267550.2:c.2317_2319del MANE Select	NP_001254479.2:p.Ser773del
NM_003319.4:c.2179_2181del	NP_003310.4:p.Ser727del
NM_133378.4:c.2317_2319del	NP_596869.4:p.Ser773del
NM_133379.4:c.2317_2319del , LRG_391t2:c.2317_2319del	NP_596870.2:p.Ser773del
NM_133432.3:c.2179_2181del	NP_597676.3:p.Ser727del
NM_133437.4:c.2179_2181del	NP_597681.4:p.Ser727del
XM_011511729.1:c.2365_2367del	XP_011510031.1:p.Ser789del
XM_011511730.1:c.2365_2367del	XP_011510032.1:p.Ser789del
XM_011511731.1:c.2224_2226del	XP_011510033.1:p.Ser742del
XM_011511732.1:c.2362_2364del	XP_011510034.1:p.Ser788del
XM_017004819.1:c.2320_2322del	XP_016860308.1:p.Ser774del
XM_017004820.1:c.2320_2322del	XP_016860309.1:p.Ser774del
XM_017004821.1:c.2317_2319del	XP_016860310.1:p.Ser773del
XM_017004822.1:c.2320_2322del	XP_016860311.1:p.Ser774del
XM_017004823.1:c.2320_2322del	XP_016860312.1:p.Ser774del
XM_024453094.1:c.2320_2322del	XP_024308862.1:p.Ser774del
XM_024453095.1:c.2320_2322del	XP_024308863.1:p.Ser774del
XM_024453096.1:c.2320_2322del	XP_024308864.1:p.Ser774del
XM_024453097.1:c.2320_2322del	XP_024308865.1:p.Ser774del
XM_024453098.1:c.2320_2322del	XP_024308866.1:p.Ser774del
XM_024453099.1:c.2320_2322del	XP_024308867.1:p.Ser774del
NM_133379.5:c.2317_2319del MANE Plus Clinical	NP_596870.2:p.Ser773del