Canonical Allele Identifier: CA16610476
Gene: TTN HGNC NCBI
TTN-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404765
ClinVar RCV Id: RCV000466289 RCV001379022
dbSNP Id: rs1064792915
MyVariant Identifiers: chr2:g.179473007_179473034del (hg19) chr2:g.178608280_178608307del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178608282_178608309del , CM000664.2:g.178608282_178608309del GRCh38
NC_000002.11:g.179473009_179473036del , CM000664.1:g.179473009_179473036del GRCh37
NC_000002.10:g.179181254_179181281del NCBI36
NG_011618.3:g.227496_227523del , LRG_391:g.227496_227523del
NG_051363.1:g.90456_90483del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.44872_44899del (TTN) ENSP00000343764.6:p.Ala14958Ter
ENST00000342175.11:c.25957_25984del (TTN) ENSP00000340554.6:p.Ala8653Ter
ENST00000359218.10:c.25756_25783del (TTN) ENSP00000352154.5:p.Ala8586Ter
ENST00000342175.10:c.25957_25984del (TTN) ENSP00000340554.6:p.Ala8653Ter
ENST00000342992.10:c.44872_44899del (TTN) ENSP00000343764.6:p.Ala14958Ter
ENST00000359218.9:c.25756_25783del (TTN) ENSP00000352154.5:p.Ala8586Ter
ENST00000460472.6:c.25381_25408del (TTN) ENSP00000434586.1:p.Ala8461Ter
ENST00000589042.5:c.52576_52603del (TTN) MANE Select ENSP00000467141.1:p.Ala17526Ter
ENST00000591111.5:c.47653_47680del (TTN) ENSP00000465570.1:p.Ala15885Ter
ENST00000615779.4:c.47653_47680del (TTN) ENSP00000483597.1:p.Ala15885Ter
NM_001256850.1:c.47653_47680del (TTN) NP_001243779.1:p.Ala15885Ter
NM_001267550.2:c.52576_52603del (TTN) MANE Select NP_001254479.2:p.Ala17526Ter
NM_003319.4:c.25381_25408del (TTN) NP_003310.4:p.Ala8461Ter
NM_133378.4:c.44872_44899del (TTN) NP_596869.4:p.Ala14958Ter
NM_133432.3:c.25756_25783del (TTN) NP_597676.3:p.Ala8586Ter
NM_133437.4:c.25957_25984del (TTN) NP_597681.4:p.Ala8653Ter
NR_038271.1:n.782+16_782+43del (TTN-AS1)
XM_011511729.1:c.51673_51700del (TTN) XP_011510031.1:p.Ala17225Ter
XM_011511730.1:c.25567_25594del (TTN) XP_011510032.1:p.Ala8523Ter
XM_011511731.1:c.25426_25453del (TTN) XP_011510033.1:p.Ala8476Ter
XM_017004819.1:c.51469_51496del (TTN) XP_016860308.1:p.Ala17157Ter
XM_017004820.1:c.46867_46894del (TTN) XP_016860309.1:p.Ala15623Ter
XM_017004821.1:c.46864_46891del (TTN) XP_016860310.1:p.Ala15622Ter
XM_017004822.1:c.43906_43933del (TTN) XP_016860311.1:p.Ala14636Ter
XM_017004823.1:c.25522_25549del (TTN) XP_016860312.1:p.Ala8508Ter
XM_024453094.1:c.47017_47044del (TTN) XP_024308862.1:p.Ala15673Ter
XM_024453095.1:c.47014_47041del (TTN) XP_024308863.1:p.Ala15672Ter
XM_024453096.1:c.46447_46474del (TTN) XP_024308864.1:p.Ala15483Ter
XM_024453097.1:c.43789_43816del (TTN) XP_024308865.1:p.Ala14597Ter
XM_024453098.1:c.43708_43735del (TTN) XP_024308866.1:p.Ala14570Ter
XM_024453099.1:c.25471_25498del (TTN) XP_024308867.1:p.Ala8491Ter
XM_024453100.1:c.15325_15352del (TTN) XP_024308868.1:p.Ala5109Ter
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