Canonical Allele Identifier: CA430244865

Linked Data

dbSNP Id: rs1698625558
MyVariant Identifiers: chr2:g.179414577A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549850A>T , CM000664.2:g.178549850A>T GRCh38
NC_000002.11:g.179414577A>T , CM000664.1:g.179414577A>T GRCh37
NC_000002.10:g.179122823A>T NCBI36
NG_011618.3:g.285953T>A , LRG_391:g.285953T>A
NG_051363.1:g.32024A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84168T>A (TTN) ENSP00000343764.6:p.Val28056=
ENST00000342175.11:c.65253T>A (TTN) ENSP00000340554.6:p.Val21751=
ENST00000359218.10:c.65052T>A (TTN) ENSP00000352154.5:p.Val21684=
ENST00000342175.10:c.65253T>A (TTN) ENSP00000340554.6:p.Val21751=
ENST00000342992.10:c.84168T>A (TTN) ENSP00000343764.6:p.Val28056=
ENST00000359218.9:c.65052T>A (TTN) ENSP00000352154.5:p.Val21684=
ENST00000460472.6:c.64677T>A (TTN) ENSP00000434586.1:p.Val21559=
ENST00000589042.5:c.91872T>A (TTN) MANE Select ENSP00000467141.1:p.Val30624=
ENST00000591111.5:c.86949T>A (TTN) ENSP00000465570.1:p.Val28983=
ENST00000615779.4:c.86949T>A (TTN) ENSP00000483597.1:p.Val28983=
NM_001256850.1:c.86949T>A (TTN) NP_001243779.1:p.Val28983=
NM_001267550.2:c.91872T>A (TTN) MANE Select NP_001254479.2:p.Val30624=
NM_003319.4:c.64677T>A (TTN) NP_003310.4:p.Val21559=
NM_133378.4:c.84168T>A (TTN) NP_596869.4:p.Val28056=
NM_133432.3:c.65052T>A (TTN) NP_597676.3:p.Val21684=
NM_133437.4:c.65253T>A (TTN) NP_597681.4:p.Val21751=
NR_038271.1:n.447-21450A>T (TTN-AS1)
NR_038272.1:n.2043+7489A>T (TTN-AS1)
XM_011511729.1:c.90969T>A (TTN) XP_011510031.1:p.Val30323=
XM_011511730.1:c.64863T>A (TTN) XP_011510032.1:p.Val21621=
XM_011511731.1:c.64722T>A (TTN) XP_011510033.1:p.Val21574=
XM_017004819.1:c.90765T>A (TTN) XP_016860308.1:p.Val30255=
XM_017004820.1:c.86163T>A (TTN) XP_016860309.1:p.Val28721=
XM_017004821.1:c.86160T>A (TTN) XP_016860310.1:p.Val28720=
XM_017004822.1:c.83202T>A (TTN) XP_016860311.1:p.Val27734=
XM_017004823.1:c.64818T>A (TTN) XP_016860312.1:p.Val21606=
XM_024453094.1:c.86313T>A (TTN) XP_024308862.1:p.Val28771=
XM_024453095.1:c.86310T>A (TTN) XP_024308863.1:p.Val28770=
XM_024453096.1:c.85743T>A (TTN) XP_024308864.1:p.Val28581=
XM_024453097.1:c.83085T>A (TTN) XP_024308865.1:p.Val27695=
XM_024453098.1:c.83004T>A (TTN) XP_024308866.1:p.Val27668=
XM_024453099.1:c.64767T>A (TTN) XP_024308867.1:p.Val21589=
XM_024453100.1:c.54621T>A (TTN) XP_024308868.1:p.Val18207=