Canonical Allele Identifier: CA349500213
Community Standard Title: NM_001267550.2(TTN):c.91564+2T>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178550965A>G , CM000664.2:g.178550965A>G GRCh38
NC_000002.11:g.179415692A>G , CM000664.1:g.179415692A>G GRCh37
NC_000002.10:g.179123938A>G NCBI36
NG_011618.3:g.284838T>C , LRG_391:g.284838T>C
NG_051363.1:g.33139A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.91564+2T>C (TTN) MANE Select NP_001254479.2:n.91564+2T>C
ENST00000589042.5:c.91564+2T>C (TTN) MANE Select ENSP00000467141.1:n.91564+2T>C
NM_001256850.1:c.86641+2T>C (TTN) NP_001243779.1:n.86641+2T>C
NM_003319.4:c.64369+2T>C (TTN) NP_003310.4:n.64369+2T>C
NM_133378.4:c.83860+2T>C (TTN) NP_596869.4:n.83860+2T>C
NM_133432.3:c.64744+2T>C (TTN) NP_597676.3:n.64744+2T>C
NM_133437.4:c.64945+2T>C (TTN) NP_597681.4:n.64945+2T>C
NR_038271.1:n.447-20335A>G (TTN-AS1)
NR_038272.1:n.2043+8604A>G (TTN-AS1)
ENST00000342175.10:c.64945+2T>C (TTN) ENSP00000340554.6:n.64945+2T>C
ENST00000342175.11:c.64945+2T>C (TTN) ENSP00000340554.6:n.64945+2T>C
ENST00000342992.10:c.83860+2T>C (TTN) ENSP00000343764.6:n.83860+2T>C
ENST00000342992.11:c.83860+2T>C (TTN) ENSP00000343764.6:n.83860+2T>C
ENST00000359218.10:c.64744+2T>C (TTN) ENSP00000352154.5:n.64744+2T>C
ENST00000359218.9:c.64744+2T>C (TTN) ENSP00000352154.5:n.64744+2T>C
ENST00000460472.6:c.64369+2T>C (TTN) ENSP00000434586.1:n.64369+2T>C
ENST00000591111.5:c.86641+2T>C (TTN) ENSP00000465570.1:n.86641+2T>C
ENST00000615779.4:c.86641+2T>C (TTN) ENSP00000483597.1:n.86641+2T>C
XM_011511729.1:c.90661+2T>C (TTN) XP_011510031.1:n.90661+2T>C
XM_011511730.1:c.64555+2T>C (TTN) XP_011510032.1:n.64555+2T>C
XM_011511731.1:c.64414+2T>C (TTN) XP_011510033.1:n.64414+2T>C
XM_017004819.1:c.90457+2T>C (TTN) XP_016860308.1:n.90457+2T>C
XM_017004820.1:c.85855+2T>C (TTN) XP_016860309.1:n.85855+2T>C
XM_017004821.1:c.85852+2T>C (TTN) XP_016860310.1:n.85852+2T>C
XM_017004822.1:c.82894+2T>C (TTN) XP_016860311.1:n.82894+2T>C
XM_017004823.1:c.64510+2T>C (TTN) XP_016860312.1:n.64510+2T>C
XM_024453094.1:c.86005+2T>C (TTN) XP_024308862.1:n.86005+2T>C
XM_024453095.1:c.86002+2T>C (TTN) XP_024308863.1:n.86002+2T>C
XM_024453096.1:c.85435+2T>C (TTN) XP_024308864.1:n.85435+2T>C
XM_024453097.1:c.82777+2T>C (TTN) XP_024308865.1:n.82777+2T>C
XM_024453098.1:c.82696+2T>C (TTN) XP_024308866.1:n.82696+2T>C
XM_024453099.1:c.64459+2T>C (TTN) XP_024308867.1:n.64459+2T>C
XM_024453100.1:c.54313+2T>C (TTN) XP_024308868.1:n.54313+2T>C