Canonical Allele Identifier: CA430241706

Linked Data

MyVariant Identifiers: chr2:g.179408663G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543936G>A , CM000664.2:g.178543936G>A GRCh38
NC_000002.11:g.179408663G>A , CM000664.1:g.179408663G>A GRCh37
NC_000002.10:g.179116909G>A NCBI36
NG_011618.3:g.291867C>T , LRG_391:g.291867C>T
NG_051363.1:g.26110G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88504C>T (TTN) ENSP00000343764.6:p.Leu29502=
ENST00000342175.11:c.69589C>T (TTN) ENSP00000340554.6:p.Leu23197=
ENST00000359218.10:c.69388C>T (TTN) ENSP00000352154.5:p.Leu23130=
ENST00000342175.10:c.69589C>T (TTN) ENSP00000340554.6:p.Leu23197=
ENST00000342992.10:c.88504C>T (TTN) ENSP00000343764.6:p.Leu29502=
ENST00000359218.9:c.69388C>T (TTN) ENSP00000352154.5:p.Leu23130=
ENST00000460472.6:c.69013C>T (TTN) ENSP00000434586.1:p.Leu23005=
ENST00000589042.5:c.96208C>T (TTN) MANE Select ENSP00000467141.1:p.Leu32070=
ENST00000591111.5:c.91285C>T (TTN) ENSP00000465570.1:p.Leu30429=
ENST00000615779.4:c.91285C>T (TTN) ENSP00000483597.1:p.Leu30429=
NM_001256850.1:c.91285C>T (TTN) NP_001243779.1:p.Leu30429=
NM_001267550.2:c.96208C>T (TTN) MANE Select NP_001254479.2:p.Leu32070=
NM_003319.4:c.69013C>T (TTN) NP_003310.4:p.Leu23005=
NM_133378.4:c.88504C>T (TTN) NP_596869.4:p.Leu29502=
NM_133432.3:c.69388C>T (TTN) NP_597676.3:p.Leu23130=
NM_133437.4:c.69589C>T (TTN) NP_597681.4:p.Leu23197=
NR_038271.1:n.446+20300G>A (TTN-AS1)
NR_038272.1:n.2043+1575G>A (TTN-AS1)
XM_011511729.1:c.95305C>T (TTN) XP_011510031.1:p.Leu31769=
XM_011511730.1:c.69199C>T (TTN) XP_011510032.1:p.Leu23067=
XM_011511731.1:c.69058C>T (TTN) XP_011510033.1:p.Leu23020=
XM_017004819.1:c.95101C>T (TTN) XP_016860308.1:p.Leu31701=
XM_017004820.1:c.90499C>T (TTN) XP_016860309.1:p.Leu30167=
XM_017004821.1:c.90496C>T (TTN) XP_016860310.1:p.Leu30166=
XM_017004822.1:c.87538C>T (TTN) XP_016860311.1:p.Leu29180=
XM_017004823.1:c.69154C>T (TTN) XP_016860312.1:p.Leu23052=
XM_024453094.1:c.90649C>T (TTN) XP_024308862.1:p.Leu30217=
XM_024453095.1:c.90646C>T (TTN) XP_024308863.1:p.Leu30216=
XM_024453096.1:c.90079C>T (TTN) XP_024308864.1:p.Leu30027=
XM_024453097.1:c.87421C>T (TTN) XP_024308865.1:p.Leu29141=
XM_024453098.1:c.87340C>T (TTN) XP_024308866.1:p.Leu29114=
XM_024453099.1:c.69103C>T (TTN) XP_024308867.1:p.Leu23035=
XM_024453100.1:c.58957C>T (TTN) XP_024308868.1:p.Leu19653=