Canonical Allele Identifier: CA430253037

Linked Data

MyVariant Identifiers: chr2:g.179432009A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567282A>G , CM000664.2:g.178567282A>G GRCh38
NC_000002.11:g.179432009A>G , CM000664.1:g.179432009A>G GRCh37
NC_000002.10:g.179140255A>G NCBI36
NG_011618.3:g.268521T>C , LRG_391:g.268521T>C
NG_051363.1:g.49456A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.71146T>C (TTN) ENSP00000343764.6:p.Leu23716=
ENST00000342175.11:c.52231T>C (TTN) ENSP00000340554.6:p.Leu17411=
ENST00000359218.10:c.52030T>C (TTN) ENSP00000352154.5:p.Leu17344=
ENST00000342175.10:c.52231T>C (TTN) ENSP00000340554.6:p.Leu17411=
ENST00000342992.10:c.71146T>C (TTN) ENSP00000343764.6:p.Leu23716=
ENST00000359218.9:c.52030T>C (TTN) ENSP00000352154.5:p.Leu17344=
ENST00000460472.6:c.51655T>C (TTN) ENSP00000434586.1:p.Leu17219=
ENST00000589042.5:c.78850T>C (TTN) MANE Select ENSP00000467141.1:p.Leu26284=
ENST00000591111.5:c.73927T>C (TTN) ENSP00000465570.1:p.Leu24643=
ENST00000615779.4:c.73927T>C (TTN) ENSP00000483597.1:p.Leu24643=
NM_001256850.1:c.73927T>C (TTN) NP_001243779.1:p.Leu24643=
NM_001267550.2:c.78850T>C (TTN) MANE Select NP_001254479.2:p.Leu26284=
NM_003319.4:c.51655T>C (TTN) NP_003310.4:p.Leu17219=
NM_133378.4:c.71146T>C (TTN) NP_596869.4:p.Leu23716=
NM_133432.3:c.52030T>C (TTN) NP_597676.3:p.Leu17344=
NM_133437.4:c.52231T>C (TTN) NP_597681.4:p.Leu17411=
NR_038271.1:n.447-4018A>G (TTN-AS1)
NR_038272.1:n.2044-15290A>G (TTN-AS1)
XM_011511729.1:c.77947T>C (TTN) XP_011510031.1:p.Leu25983=
XM_011511730.1:c.51841T>C (TTN) XP_011510032.1:p.Leu17281=
XM_011511731.1:c.51700T>C (TTN) XP_011510033.1:p.Leu17234=
XM_017004819.1:c.77743T>C (TTN) XP_016860308.1:p.Leu25915=
XM_017004820.1:c.73141T>C (TTN) XP_016860309.1:p.Leu24381=
XM_017004821.1:c.73138T>C (TTN) XP_016860310.1:p.Leu24380=
XM_017004822.1:c.70180T>C (TTN) XP_016860311.1:p.Leu23394=
XM_017004823.1:c.51796T>C (TTN) XP_016860312.1:p.Leu17266=
XM_024453094.1:c.73291T>C (TTN) XP_024308862.1:p.Leu24431=
XM_024453095.1:c.73288T>C (TTN) XP_024308863.1:p.Leu24430=
XM_024453096.1:c.72721T>C (TTN) XP_024308864.1:p.Leu24241=
XM_024453097.1:c.70063T>C (TTN) XP_024308865.1:p.Leu23355=
XM_024453098.1:c.69982T>C (TTN) XP_024308866.1:p.Leu23328=
XM_024453099.1:c.51745T>C (TTN) XP_024308867.1:p.Leu17249=
XM_024453100.1:c.41599T>C (TTN) XP_024308868.1:p.Leu13867=