Canonical Allele Identifier: CA430113558
Gene: TTN HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.179495050C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630323C>T , CM000664.2:g.178630323C>T GRCh38
NC_000002.11:g.179495050C>T , CM000664.1:g.179495050C>T GRCh37
NC_000002.10:g.179203295C>T NCBI36
NG_011618.3:g.205480G>A , LRG_391:g.205480G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.36495G>A ENSP00000343764.6:p.Leu12165=
ENST00000342175.11:c.17580G>A ENSP00000340554.6:p.Leu5860=
ENST00000359218.10:c.17379G>A ENSP00000352154.5:p.Leu5793=
ENST00000342175.10:c.17580G>A ENSP00000340554.6:p.Leu5860=
ENST00000342992.10:c.36495G>A ENSP00000343764.6:p.Leu12165=
ENST00000359218.9:c.17379G>A ENSP00000352154.5:p.Leu5793=
ENST00000460472.6:c.17004G>A ENSP00000434586.1:p.Leu5668=
ENST00000589042.5:c.44199G>A MANE Select ENSP00000467141.1:p.Leu14733=
ENST00000591111.5:c.39276G>A ENSP00000465570.1:p.Leu13092=
ENST00000615779.4:c.39276G>A ENSP00000483597.1:p.Leu13092=
NM_001256850.1:c.39276G>A NP_001243779.1:p.Leu13092=
NM_001267550.2:c.44199G>A MANE Select NP_001254479.2:p.Leu14733=
NM_003319.4:c.17004G>A NP_003310.4:p.Leu5668=
NM_133378.4:c.36495G>A NP_596869.4:p.Leu12165=
NM_133432.3:c.17379G>A NP_597676.3:p.Leu5793=
NM_133437.4:c.17580G>A NP_597681.4:p.Leu5860=
XM_011511729.1:c.43296G>A XP_011510031.1:p.Leu14432=
XM_011511730.1:c.17190G>A XP_011510032.1:p.Leu5730=
XM_011511731.1:c.17049G>A XP_011510033.1:p.Leu5683=
XM_017004819.1:c.43092G>A XP_016860308.1:p.Leu14364=
XM_017004820.1:c.38490G>A XP_016860309.1:p.Leu12830=
XM_017004821.1:c.38487G>A XP_016860310.1:p.Leu12829=
XM_017004822.1:c.35529G>A XP_016860311.1:p.Leu11843=
XM_017004823.1:c.17145G>A XP_016860312.1:p.Leu5715=
XM_024453094.1:c.38640G>A XP_024308862.1:p.Leu12880=
XM_024453095.1:c.38637G>A XP_024308863.1:p.Leu12879=
XM_024453096.1:c.38070G>A XP_024308864.1:p.Leu12690=
XM_024453097.1:c.35412G>A XP_024308865.1:p.Leu11804=
XM_024453098.1:c.35331G>A XP_024308866.1:p.Leu11777=
XM_024453099.1:c.17094G>A XP_024308867.1:p.Leu5698=
XM_024453100.1:c.6948G>A XP_024308868.1:p.Leu2316=