Canonical Allele Identifier: CA430113429
Gene: TTN HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.179494984G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630257G>T , CM000664.2:g.178630257G>T GRCh38
NC_000002.11:g.179494984G>T , CM000664.1:g.179494984G>T GRCh37
NC_000002.10:g.179203229G>T NCBI36
NG_011618.3:g.205546C>A , LRG_391:g.205546C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.36561C>A ENSP00000343764.6:p.Ala12187=
ENST00000342175.11:c.17646C>A ENSP00000340554.6:p.Ala5882=
ENST00000359218.10:c.17445C>A ENSP00000352154.5:p.Ala5815=
ENST00000342175.10:c.17646C>A ENSP00000340554.6:p.Ala5882=
ENST00000342992.10:c.36561C>A ENSP00000343764.6:p.Ala12187=
ENST00000359218.9:c.17445C>A ENSP00000352154.5:p.Ala5815=
ENST00000460472.6:c.17070C>A ENSP00000434586.1:p.Ala5690=
ENST00000589042.5:c.44265C>A MANE Select ENSP00000467141.1:p.Ala14755=
ENST00000591111.5:c.39342C>A ENSP00000465570.1:p.Ala13114=
ENST00000615779.4:c.39342C>A ENSP00000483597.1:p.Ala13114=
NM_001256850.1:c.39342C>A NP_001243779.1:p.Ala13114=
NM_001267550.2:c.44265C>A MANE Select NP_001254479.2:p.Ala14755=
NM_003319.4:c.17070C>A NP_003310.4:p.Ala5690=
NM_133378.4:c.36561C>A NP_596869.4:p.Ala12187=
NM_133432.3:c.17445C>A NP_597676.3:p.Ala5815=
NM_133437.4:c.17646C>A NP_597681.4:p.Ala5882=
XM_011511729.1:c.43362C>A XP_011510031.1:p.Ala14454=
XM_011511730.1:c.17256C>A XP_011510032.1:p.Ala5752=
XM_011511731.1:c.17115C>A XP_011510033.1:p.Ala5705=
XM_017004819.1:c.43158C>A XP_016860308.1:p.Ala14386=
XM_017004820.1:c.38556C>A XP_016860309.1:p.Ala12852=
XM_017004821.1:c.38553C>A XP_016860310.1:p.Ala12851=
XM_017004822.1:c.35595C>A XP_016860311.1:p.Ala11865=
XM_017004823.1:c.17211C>A XP_016860312.1:p.Ala5737=
XM_024453094.1:c.38706C>A XP_024308862.1:p.Ala12902=
XM_024453095.1:c.38703C>A XP_024308863.1:p.Ala12901=
XM_024453096.1:c.38136C>A XP_024308864.1:p.Ala12712=
XM_024453097.1:c.35478C>A XP_024308865.1:p.Ala11826=
XM_024453098.1:c.35397C>A XP_024308866.1:p.Ala11799=
XM_024453099.1:c.17160C>A XP_024308867.1:p.Ala5720=
XM_024453100.1:c.7014C>A XP_024308868.1:p.Ala2338=