Canonical Allele Identifier: CA349401549
Community Standard Title: NM_001267550.2(TTN):c.107223+2T>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178528526A>G , CM000664.2:g.178528526A>G GRCh38
NC_000002.11:g.179393253A>G , CM000664.1:g.179393253A>G GRCh37
NC_000002.10:g.179101499A>G NCBI36
NG_011618.3:g.307277T>C , LRG_391:g.307277T>C
NG_051363.1:g.10700A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.107223+2T>C (TTN) MANE Select NP_001254479.2:n.107223+2T>C
ENST00000589042.5:c.107223+2T>C (TTN) MANE Select ENSP00000467141.1:n.107223+2T>C
NM_001256850.1:c.102300+2T>C (TTN) NP_001243779.1:n.102300+2T>C
NM_003319.4:c.80028+2T>C (TTN) NP_003310.4:n.80028+2T>C
NM_133378.4:c.99519+2T>C (TTN) NP_596869.4:n.99519+2T>C
NM_133432.3:c.80403+2T>C (TTN) NP_597676.3:n.80403+2T>C
NM_133437.4:c.80604+2T>C (TTN) NP_597681.4:n.80604+2T>C
NR_038271.1:n.446+4890A>G (TTN-AS1)
NR_038272.1:n.219+4890A>G (TTN-AS1)
ENST00000342175.10:c.80604+2T>C (TTN) ENSP00000340554.6:n.80604+2T>C
ENST00000342175.11:c.80604+2T>C (TTN) ENSP00000340554.6:n.80604+2T>C
ENST00000342992.10:c.99519+2T>C (TTN) ENSP00000343764.6:n.99519+2T>C
ENST00000342992.11:c.99519+2T>C (TTN) ENSP00000343764.6:n.99519+2T>C
ENST00000359218.10:c.80403+2T>C (TTN) ENSP00000352154.5:n.80403+2T>C
ENST00000359218.9:c.80403+2T>C (TTN) ENSP00000352154.5:n.80403+2T>C
ENST00000460472.6:c.80028+2T>C (TTN) ENSP00000434586.1:n.80028+2T>C
ENST00000591111.5:c.102300+2T>C (TTN) ENSP00000465570.1:n.102300+2T>C
ENST00000615779.4:c.102300+2T>C (TTN) ENSP00000483597.1:n.102300+2T>C
XM_011511729.1:c.106320+2T>C (TTN) XP_011510031.1:n.106320+2T>C
XM_011511730.1:c.80214+2T>C (TTN) XP_011510032.1:n.80214+2T>C
XM_011511731.1:c.80073+2T>C (TTN) XP_011510033.1:n.80073+2T>C
XM_017004819.1:c.106116+2T>C (TTN) XP_016860308.1:n.106116+2T>C
XM_017004820.1:c.101514+2T>C (TTN) XP_016860309.1:n.101514+2T>C
XM_017004821.1:c.101511+2T>C (TTN) XP_016860310.1:n.101511+2T>C
XM_017004822.1:c.98553+2T>C (TTN) XP_016860311.1:n.98553+2T>C
XM_017004823.1:c.80169+2T>C (TTN) XP_016860312.1:n.80169+2T>C
XM_024453094.1:c.101664+2T>C (TTN) XP_024308862.1:n.101664+2T>C
XM_024453095.1:c.101661+2T>C (TTN) XP_024308863.1:n.101661+2T>C
XM_024453096.1:c.101094+2T>C (TTN) XP_024308864.1:n.101094+2T>C
XM_024453097.1:c.98436+2T>C (TTN) XP_024308865.1:n.98436+2T>C
XM_024453098.1:c.98355+2T>C (TTN) XP_024308866.1:n.98355+2T>C
XM_024453099.1:c.80118+2T>C (TTN) XP_024308867.1:n.80118+2T>C
XM_024453100.1:c.69972+2T>C (TTN) XP_024308868.1:n.69972+2T>C