Canonical Allele Identifier: CA430244858

Linked Data

MyVariant Identifiers: chr2:g.179414568T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549841T>G , CM000664.2:g.178549841T>G GRCh38
NC_000002.11:g.179414568T>G , CM000664.1:g.179414568T>G GRCh37
NC_000002.10:g.179122814T>G NCBI36
NG_011618.3:g.285962A>C , LRG_391:g.285962A>C
NG_051363.1:g.32015T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84177A>C (TTN) ENSP00000343764.6:p.Ile28059=
ENST00000342175.11:c.65262A>C (TTN) ENSP00000340554.6:p.Ile21754=
ENST00000359218.10:c.65061A>C (TTN) ENSP00000352154.5:p.Ile21687=
ENST00000342175.10:c.65262A>C (TTN) ENSP00000340554.6:p.Ile21754=
ENST00000342992.10:c.84177A>C (TTN) ENSP00000343764.6:p.Ile28059=
ENST00000359218.9:c.65061A>C (TTN) ENSP00000352154.5:p.Ile21687=
ENST00000460472.6:c.64686A>C (TTN) ENSP00000434586.1:p.Ile21562=
ENST00000589042.5:c.91881A>C (TTN) MANE Select ENSP00000467141.1:p.Ile30627=
ENST00000591111.5:c.86958A>C (TTN) ENSP00000465570.1:p.Ile28986=
ENST00000615779.4:c.86958A>C (TTN) ENSP00000483597.1:p.Ile28986=
NM_001256850.1:c.86958A>C (TTN) NP_001243779.1:p.Ile28986=
NM_001267550.2:c.91881A>C (TTN) MANE Select NP_001254479.2:p.Ile30627=
NM_003319.4:c.64686A>C (TTN) NP_003310.4:p.Ile21562=
NM_133378.4:c.84177A>C (TTN) NP_596869.4:p.Ile28059=
NM_133432.3:c.65061A>C (TTN) NP_597676.3:p.Ile21687=
NM_133437.4:c.65262A>C (TTN) NP_597681.4:p.Ile21754=
NR_038271.1:n.447-21459T>G (TTN-AS1)
NR_038272.1:n.2043+7480T>G (TTN-AS1)
XM_011511729.1:c.90978A>C (TTN) XP_011510031.1:p.Ile30326=
XM_011511730.1:c.64872A>C (TTN) XP_011510032.1:p.Ile21624=
XM_011511731.1:c.64731A>C (TTN) XP_011510033.1:p.Ile21577=
XM_017004819.1:c.90774A>C (TTN) XP_016860308.1:p.Ile30258=
XM_017004820.1:c.86172A>C (TTN) XP_016860309.1:p.Ile28724=
XM_017004821.1:c.86169A>C (TTN) XP_016860310.1:p.Ile28723=
XM_017004822.1:c.83211A>C (TTN) XP_016860311.1:p.Ile27737=
XM_017004823.1:c.64827A>C (TTN) XP_016860312.1:p.Ile21609=
XM_024453094.1:c.86322A>C (TTN) XP_024308862.1:p.Ile28774=
XM_024453095.1:c.86319A>C (TTN) XP_024308863.1:p.Ile28773=
XM_024453096.1:c.85752A>C (TTN) XP_024308864.1:p.Ile28584=
XM_024453097.1:c.83094A>C (TTN) XP_024308865.1:p.Ile27698=
XM_024453098.1:c.83013A>C (TTN) XP_024308866.1:p.Ile27671=
XM_024453099.1:c.64776A>C (TTN) XP_024308867.1:p.Ile21592=
XM_024453100.1:c.54630A>C (TTN) XP_024308868.1:p.Ile18210=