Canonical Allele Identifier: CA349520232
Community Standard Title: NM_001267550.2(TTN):c.89197+2T>G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553912A>C , CM000664.2:g.178553912A>C GRCh38
NC_000002.11:g.179418639A>C , CM000664.1:g.179418639A>C GRCh37
NC_000002.10:g.179126885A>C NCBI36
NG_011618.3:g.281891T>G , LRG_391:g.281891T>G
NG_051363.1:g.36086A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89197+2T>G (TTN) MANE Select NP_001254479.2:n.89197+2T>G
ENST00000589042.5:c.89197+2T>G (TTN) MANE Select ENSP00000467141.1:n.89197+2T>G
NM_001256850.1:c.84274+2T>G (TTN) NP_001243779.1:n.84274+2T>G
NM_003319.4:c.62002+2T>G (TTN) NP_003310.4:n.62002+2T>G
NM_133378.4:c.81493+2T>G (TTN) NP_596869.4:n.81493+2T>G
NM_133432.3:c.62377+2T>G (TTN) NP_597676.3:n.62377+2T>G
NM_133437.4:c.62578+2T>G (TTN) NP_597681.4:n.62578+2T>G
NR_038271.1:n.447-17388A>C (TTN-AS1)
NR_038272.1:n.2043+11551A>C (TTN-AS1)
ENST00000342175.10:c.62578+2T>G (TTN) ENSP00000340554.6:n.62578+2T>G
ENST00000342175.11:c.62578+2T>G (TTN) ENSP00000340554.6:n.62578+2T>G
ENST00000342992.10:c.81493+2T>G (TTN) ENSP00000343764.6:n.81493+2T>G
ENST00000342992.11:c.81493+2T>G (TTN) ENSP00000343764.6:n.81493+2T>G
ENST00000359218.10:c.62377+2T>G (TTN) ENSP00000352154.5:n.62377+2T>G
ENST00000359218.9:c.62377+2T>G (TTN) ENSP00000352154.5:n.62377+2T>G
ENST00000460472.6:c.62002+2T>G (TTN) ENSP00000434586.1:n.62002+2T>G
ENST00000591111.5:c.84274+2T>G (TTN) ENSP00000465570.1:n.84274+2T>G
ENST00000615779.4:c.84274+2T>G (TTN) ENSP00000483597.1:n.84274+2T>G
XM_011511729.1:c.88294+2T>G (TTN) XP_011510031.1:n.88294+2T>G
XM_011511730.1:c.62188+2T>G (TTN) XP_011510032.1:n.62188+2T>G
XM_011511731.1:c.62047+2T>G (TTN) XP_011510033.1:n.62047+2T>G
XM_017004819.1:c.88090+2T>G (TTN) XP_016860308.1:n.88090+2T>G
XM_017004820.1:c.83488+2T>G (TTN) XP_016860309.1:n.83488+2T>G
XM_017004821.1:c.83485+2T>G (TTN) XP_016860310.1:n.83485+2T>G
XM_017004822.1:c.80527+2T>G (TTN) XP_016860311.1:n.80527+2T>G
XM_017004823.1:c.62143+2T>G (TTN) XP_016860312.1:n.62143+2T>G
XM_024453094.1:c.83638+2T>G (TTN) XP_024308862.1:n.83638+2T>G
XM_024453095.1:c.83635+2T>G (TTN) XP_024308863.1:n.83635+2T>G
XM_024453096.1:c.83068+2T>G (TTN) XP_024308864.1:n.83068+2T>G
XM_024453097.1:c.80410+2T>G (TTN) XP_024308865.1:n.80410+2T>G
XM_024453098.1:c.80329+2T>G (TTN) XP_024308866.1:n.80329+2T>G
XM_024453099.1:c.62092+2T>G (TTN) XP_024308867.1:n.62092+2T>G
XM_024453100.1:c.51946+2T>G (TTN) XP_024308868.1:n.51946+2T>G