Canonical Allele Identifier: CA349438512
Community Standard Title: NM_001267550.2(TTN):c.64672+2T>A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178585070A>T , CM000664.2:g.178585070A>T GRCh38
NC_000002.11:g.179449797A>T , CM000664.1:g.179449797A>T GRCh37
NC_000002.10:g.179158043A>T NCBI36
NG_011618.3:g.250733T>A , LRG_391:g.250733T>A
NG_051363.1:g.67244A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64672+2T>A (TTN) MANE Select NP_001254479.2:n.64672+2T>A
ENST00000589042.5:c.64672+2T>A (TTN) MANE Select ENSP00000467141.1:n.64672+2T>A
NM_001256850.1:c.59749+2T>A (TTN) NP_001243779.1:n.59749+2T>A
NM_003319.4:c.37477+2T>A (TTN) NP_003310.4:n.37477+2T>A
NM_133378.4:c.56968+2T>A (TTN) NP_596869.4:n.56968+2T>A
NM_133432.3:c.37852+2T>A (TTN) NP_597676.3:n.37852+2T>A
NM_133437.4:c.38053+2T>A (TTN) NP_597681.4:n.38053+2T>A
NR_038271.1:n.597-12526A>T (TTN-AS1)
NR_038272.1:n.3188+77A>T (TTN-AS1)
ENST00000342175.10:c.38053+2T>A (TTN) ENSP00000340554.6:n.38053+2T>A
ENST00000342175.11:c.38053+2T>A (TTN) ENSP00000340554.6:n.38053+2T>A
ENST00000342992.10:c.56968+2T>A (TTN) ENSP00000343764.6:n.56968+2T>A
ENST00000342992.11:c.56968+2T>A (TTN) ENSP00000343764.6:n.56968+2T>A
ENST00000359218.10:c.37852+2T>A (TTN) ENSP00000352154.5:n.37852+2T>A
ENST00000359218.9:c.37852+2T>A (TTN) ENSP00000352154.5:n.37852+2T>A
ENST00000460472.6:c.37477+2T>A (TTN) ENSP00000434586.1:n.37477+2T>A
ENST00000591111.5:c.59749+2T>A (TTN) ENSP00000465570.1:n.59749+2T>A
ENST00000615779.4:c.59749+2T>A (TTN) ENSP00000483597.1:n.59749+2T>A
XM_011511729.1:c.63769+2T>A (TTN) XP_011510031.1:n.63769+2T>A
XM_011511730.1:c.37663+2T>A (TTN) XP_011510032.1:n.37663+2T>A
XM_011511731.1:c.37522+2T>A (TTN) XP_011510033.1:n.37522+2T>A
XM_017004819.1:c.63565+2T>A (TTN) XP_016860308.1:n.63565+2T>A
XM_017004820.1:c.58963+2T>A (TTN) XP_016860309.1:n.58963+2T>A
XM_017004821.1:c.58960+2T>A (TTN) XP_016860310.1:n.58960+2T>A
XM_017004822.1:c.56002+2T>A (TTN) XP_016860311.1:n.56002+2T>A
XM_017004823.1:c.37618+2T>A (TTN) XP_016860312.1:n.37618+2T>A
XM_024453094.1:c.59113+2T>A (TTN) XP_024308862.1:n.59113+2T>A
XM_024453095.1:c.59110+2T>A (TTN) XP_024308863.1:n.59110+2T>A
XM_024453096.1:c.58543+2T>A (TTN) XP_024308864.1:n.58543+2T>A
XM_024453097.1:c.55885+2T>A (TTN) XP_024308865.1:n.55885+2T>A
XM_024453098.1:c.55804+2T>A (TTN) XP_024308866.1:n.55804+2T>A
XM_024453099.1:c.37567+2T>A (TTN) XP_024308867.1:n.37567+2T>A
XM_024453100.1:c.27421+2T>A (TTN) XP_024308868.1:n.27421+2T>A