Canonical Allele Identifier: CA430241524

Linked Data

MyVariant Identifiers: chr2:g.179408811T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544084T>G , CM000664.2:g.178544084T>G GRCh38
NC_000002.11:g.179408811T>G , CM000664.1:g.179408811T>G GRCh37
NC_000002.10:g.179117057T>G NCBI36
NG_011618.3:g.291719A>C , LRG_391:g.291719A>C
NG_051363.1:g.26258T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88356A>C (TTN) ENSP00000343764.6:p.Leu29452=
ENST00000342175.11:c.69441A>C (TTN) ENSP00000340554.6:p.Leu23147=
ENST00000359218.10:c.69240A>C (TTN) ENSP00000352154.5:p.Leu23080=
ENST00000342175.10:c.69441A>C (TTN) ENSP00000340554.6:p.Leu23147=
ENST00000342992.10:c.88356A>C (TTN) ENSP00000343764.6:p.Leu29452=
ENST00000359218.9:c.69240A>C (TTN) ENSP00000352154.5:p.Leu23080=
ENST00000460472.6:c.68865A>C (TTN) ENSP00000434586.1:p.Leu22955=
ENST00000589042.5:c.96060A>C (TTN) MANE Select ENSP00000467141.1:p.Leu32020=
ENST00000591111.5:c.91137A>C (TTN) ENSP00000465570.1:p.Leu30379=
ENST00000615779.4:c.91137A>C (TTN) ENSP00000483597.1:p.Leu30379=
NM_001256850.1:c.91137A>C (TTN) NP_001243779.1:p.Leu30379=
NM_001267550.2:c.96060A>C (TTN) MANE Select NP_001254479.2:p.Leu32020=
NM_003319.4:c.68865A>C (TTN) NP_003310.4:p.Leu22955=
NM_133378.4:c.88356A>C (TTN) NP_596869.4:p.Leu29452=
NM_133432.3:c.69240A>C (TTN) NP_597676.3:p.Leu23080=
NM_133437.4:c.69441A>C (TTN) NP_597681.4:p.Leu23147=
NR_038271.1:n.446+20448T>G (TTN-AS1)
NR_038272.1:n.2043+1723T>G (TTN-AS1)
XM_011511729.1:c.95157A>C (TTN) XP_011510031.1:p.Leu31719=
XM_011511730.1:c.69051A>C (TTN) XP_011510032.1:p.Leu23017=
XM_011511731.1:c.68910A>C (TTN) XP_011510033.1:p.Leu22970=
XM_017004819.1:c.94953A>C (TTN) XP_016860308.1:p.Leu31651=
XM_017004820.1:c.90351A>C (TTN) XP_016860309.1:p.Leu30117=
XM_017004821.1:c.90348A>C (TTN) XP_016860310.1:p.Leu30116=
XM_017004822.1:c.87390A>C (TTN) XP_016860311.1:p.Leu29130=
XM_017004823.1:c.69006A>C (TTN) XP_016860312.1:p.Leu23002=
XM_024453094.1:c.90501A>C (TTN) XP_024308862.1:p.Leu30167=
XM_024453095.1:c.90498A>C (TTN) XP_024308863.1:p.Leu30166=
XM_024453096.1:c.89931A>C (TTN) XP_024308864.1:p.Leu29977=
XM_024453097.1:c.87273A>C (TTN) XP_024308865.1:p.Leu29091=
XM_024453098.1:c.87192A>C (TTN) XP_024308866.1:p.Leu29064=
XM_024453099.1:c.68955A>C (TTN) XP_024308867.1:p.Leu22985=
XM_024453100.1:c.58809A>C (TTN) XP_024308868.1:p.Leu19603=