Canonical Allele Identifier: CA430241772

Linked Data

MyVariant Identifiers: chr2:g.179409067G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544340G>A , CM000664.2:g.178544340G>A GRCh38
NC_000002.11:g.179409067G>A , CM000664.1:g.179409067G>A GRCh37
NC_000002.10:g.179117313G>A NCBI36
NG_011618.3:g.291463C>T , LRG_391:g.291463C>T
NG_051363.1:g.26514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88185C>T (TTN) ENSP00000343764.6:p.Ala29395=
ENST00000342175.11:c.69270C>T (TTN) ENSP00000340554.6:p.Ala23090=
ENST00000359218.10:c.69069C>T (TTN) ENSP00000352154.5:p.Ala23023=
ENST00000342175.10:c.69270C>T (TTN) ENSP00000340554.6:p.Ala23090=
ENST00000342992.10:c.88185C>T (TTN) ENSP00000343764.6:p.Ala29395=
ENST00000359218.9:c.69069C>T (TTN) ENSP00000352154.5:p.Ala23023=
ENST00000460472.6:c.68694C>T (TTN) ENSP00000434586.1:p.Ala22898=
ENST00000589042.5:c.95889C>T (TTN) MANE Select ENSP00000467141.1:p.Ala31963=
ENST00000591111.5:c.90966C>T (TTN) ENSP00000465570.1:p.Ala30322=
ENST00000615779.4:c.90966C>T (TTN) ENSP00000483597.1:p.Ala30322=
NM_001256850.1:c.90966C>T (TTN) NP_001243779.1:p.Ala30322=
NM_001267550.2:c.95889C>T (TTN) MANE Select NP_001254479.2:p.Ala31963=
NM_003319.4:c.68694C>T (TTN) NP_003310.4:p.Ala22898=
NM_133378.4:c.88185C>T (TTN) NP_596869.4:p.Ala29395=
NM_133432.3:c.69069C>T (TTN) NP_597676.3:p.Ala23023=
NM_133437.4:c.69270C>T (TTN) NP_597681.4:p.Ala23090=
NR_038271.1:n.446+20704G>A (TTN-AS1)
NR_038272.1:n.2043+1979G>A (TTN-AS1)
XM_011511729.1:c.94986C>T (TTN) XP_011510031.1:p.Ala31662=
XM_011511730.1:c.68880C>T (TTN) XP_011510032.1:p.Ala22960=
XM_011511731.1:c.68739C>T (TTN) XP_011510033.1:p.Ala22913=
XM_017004819.1:c.94782C>T (TTN) XP_016860308.1:p.Ala31594=
XM_017004820.1:c.90180C>T (TTN) XP_016860309.1:p.Ala30060=
XM_017004821.1:c.90177C>T (TTN) XP_016860310.1:p.Ala30059=
XM_017004822.1:c.87219C>T (TTN) XP_016860311.1:p.Ala29073=
XM_017004823.1:c.68835C>T (TTN) XP_016860312.1:p.Ala22945=
XM_024453094.1:c.90330C>T (TTN) XP_024308862.1:p.Ala30110=
XM_024453095.1:c.90327C>T (TTN) XP_024308863.1:p.Ala30109=
XM_024453096.1:c.89760C>T (TTN) XP_024308864.1:p.Ala29920=
XM_024453097.1:c.87102C>T (TTN) XP_024308865.1:p.Ala29034=
XM_024453098.1:c.87021C>T (TTN) XP_024308866.1:p.Ala29007=
XM_024453099.1:c.68784C>T (TTN) XP_024308867.1:p.Ala22928=
XM_024453100.1:c.58638C>T (TTN) XP_024308868.1:p.Ala19546=