Canonical Allele Identifier: CA2662129891
Gene: TTN HGNC NCBI
TTN-AS1 HGNC NCBI
gnomAD v4:
chr2-178582880-C-G
Joint Max Group AF 3.4e-7 (NFE)
Exomes Max Group AF 3.6e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178582880C>G , CM000664.2:g.178582880C>G GRCh38
NC_000002.11:g.179447607C>G , CM000664.1:g.179447607C>G GRCh37
NC_000002.10:g.179155853C>G NCBI36
NG_011618.3:g.252923G>C , LRG_391:g.252923G>C
NG_051363.1:g.65054C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.58159+60G>C (TTN) ENSP00000343764.6:n.58159+60G>C
ENST00000342175.11:c.39244+60G>C (TTN) ENSP00000340554.6:n.39244+60G>C
ENST00000359218.10:c.39043+60G>C (TTN) ENSP00000352154.5:n.39043+60G>C
ENST00000342175.10:c.39244+60G>C (TTN) ENSP00000340554.6:n.39244+60G>C
ENST00000342992.10:c.58159+60G>C (TTN) ENSP00000343764.6:n.58159+60G>C
ENST00000359218.9:c.39043+60G>C (TTN) ENSP00000352154.5:n.39043+60G>C
ENST00000460472.6:c.38668+60G>C (TTN) ENSP00000434586.1:n.38668+60G>C
ENST00000589042.5:c.65863+60G>C (TTN) MANE Select ENSP00000467141.1:n.65863+60G>C
ENST00000591111.5:c.60940+60G>C (TTN) ENSP00000465570.1:n.60940+60G>C
ENST00000615779.4:c.60940+60G>C (TTN) ENSP00000483597.1:n.60940+60G>C
NM_001256850.1:c.60940+60G>C (TTN) NP_001243779.1:n.60940+60G>C
NM_001267550.2:c.65863+60G>C (TTN) MANE Select NP_001254479.2:n.65863+60G>C
NM_003319.4:c.38668+60G>C (TTN) NP_003310.4:n.38668+60G>C
NM_133378.4:c.58159+60G>C (TTN) NP_596869.4:n.58159+60G>C
NM_133432.3:c.39043+60G>C (TTN) NP_597676.3:n.39043+60G>C
NM_133437.4:c.39244+60G>C (TTN) NP_597681.4:n.39244+60G>C
NR_038271.1:n.596+11431C>G (TTN-AS1)
NR_038272.1:n.2179-111C>G (TTN-AS1)
XM_011511729.1:c.64960+60G>C (TTN) XP_011510031.1:n.64960+60G>C
XM_011511730.1:c.38854+60G>C (TTN) XP_011510032.1:n.38854+60G>C
XM_011511731.1:c.38713+60G>C (TTN) XP_011510033.1:n.38713+60G>C
XM_017004819.1:c.64756+60G>C (TTN) XP_016860308.1:n.64756+60G>C
XM_017004820.1:c.60154+60G>C (TTN) XP_016860309.1:n.60154+60G>C
XM_017004821.1:c.60151+60G>C (TTN) XP_016860310.1:n.60151+60G>C
XM_017004822.1:c.57193+60G>C (TTN) XP_016860311.1:n.57193+60G>C
XM_017004823.1:c.38809+60G>C (TTN) XP_016860312.1:n.38809+60G>C
XM_024453094.1:c.60304+60G>C (TTN) XP_024308862.1:n.60304+60G>C
XM_024453095.1:c.60301+60G>C (TTN) XP_024308863.1:n.60301+60G>C
XM_024453096.1:c.59734+60G>C (TTN) XP_024308864.1:n.59734+60G>C
XM_024453097.1:c.57076+60G>C (TTN) XP_024308865.1:n.57076+60G>C
XM_024453098.1:c.56995+60G>C (TTN) XP_024308866.1:n.56995+60G>C
XM_024453099.1:c.38758+60G>C (TTN) XP_024308867.1:n.38758+60G>C
XM_024453100.1:c.28612+60G>C (TTN) XP_024308868.1:n.28612+60G>C
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