Canonical Allele Identifier: CA353040

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 223321
• ClinVar RCV Id: RCV000208927
• dbSNP Id: rs869312079
• MyVariant Identifiers: chr2:g.179429341del (hg19) ; chr2:g.178564614del (hg38)
• PubMed: PMID:25589632

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564616del , CM000664.2:g.178564616del	GRCh38
NC_000002.11:g.179429343del , CM000664.1:g.179429343del	GRCh37
NC_000002.10:g.179137589del	NCBI36
NG_011618.3:g.271189del , LRG_391:g.271189del
NG_051363.1:g.46790del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73814del (TTN)	ENSP00000343764.6:p.Pro24605HisfsTer17
ENST00000342175.11:c.54899del (TTN)	ENSP00000340554.6:p.Pro18300HisfsTer17
ENST00000359218.10:c.54698del (TTN)	ENSP00000352154.5:p.Pro18233HisfsTer17
ENST00000342175.10:c.54899del (TTN)	ENSP00000340554.6:p.Pro18300HisfsTer17
ENST00000342992.10:c.73814del (TTN)	ENSP00000343764.6:p.Pro24605HisfsTer17
ENST00000359218.9:c.54698del (TTN)	ENSP00000352154.5:p.Pro18233HisfsTer17
ENST00000460472.6:c.54323del (TTN)	ENSP00000434586.1:p.Pro18108HisfsTer17
ENST00000589042.5:c.81518del (TTN) MANE Select	ENSP00000467141.1:p.Pro27173HisfsTer17
ENST00000591111.5:c.76595del (TTN)	ENSP00000465570.1:p.Pro25532HisfsTer17
ENST00000615779.4:c.76595del (TTN)	ENSP00000483597.1:p.Pro25532HisfsTer17
NM_001256850.1:c.76595del (TTN)	NP_001243779.1:p.Pro25532HisfsTer17
NM_001267550.2:c.81518del (TTN) MANE Select	NP_001254479.2:p.Pro27173HisfsTer17
NM_003319.4:c.54323del (TTN)	NP_003310.4:p.Pro18108HisfsTer17
NM_133378.4:c.73814del (TTN)	NP_596869.4:p.Pro24605HisfsTer17
NM_133432.3:c.54698del (TTN)	NP_597676.3:p.Pro18233HisfsTer17
NM_133437.4:c.54899del (TTN)	NP_597681.4:p.Pro18300HisfsTer17
NR_038271.1:n.447-6684del (TTN-AS1)
NR_038272.1:n.2044-17956del (TTN-AS1)
XM_011511729.1:c.80615del (TTN)	XP_011510031.1:p.Pro26872HisfsTer17
XM_011511730.1:c.54509del (TTN)	XP_011510032.1:p.Pro18170HisfsTer17
XM_011511731.1:c.54368del (TTN)	XP_011510033.1:p.Pro18123HisfsTer17
XM_017004819.1:c.80411del (TTN)	XP_016860308.1:p.Pro26804HisfsTer17
XM_017004820.1:c.75809del (TTN)	XP_016860309.1:p.Pro25270HisfsTer17
XM_017004821.1:c.75806del (TTN)	XP_016860310.1:p.Pro25269HisfsTer17
XM_017004822.1:c.72848del (TTN)	XP_016860311.1:p.Pro24283HisfsTer17
XM_017004823.1:c.54464del (TTN)	XP_016860312.1:p.Pro18155HisfsTer17
XM_024453094.1:c.75959del (TTN)	XP_024308862.1:p.Pro25320HisfsTer17
XM_024453095.1:c.75956del (TTN)	XP_024308863.1:p.Pro25319HisfsTer17
XM_024453096.1:c.75389del (TTN)	XP_024308864.1:p.Pro25130HisfsTer17
XM_024453097.1:c.72731del (TTN)	XP_024308865.1:p.Pro24244HisfsTer17
XM_024453098.1:c.72650del (TTN)	XP_024308866.1:p.Pro24217HisfsTer17
XM_024453099.1:c.54413del (TTN)	XP_024308867.1:p.Pro18138HisfsTer17
XM_024453100.1:c.44267del (TTN)	XP_024308868.1:p.Pro14756HisfsTer17