Canonical Allele Identifier: CA430254003

Linked Data

MyVariant Identifiers: chr2:g.179433725T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568998T>G , CM000664.2:g.178568998T>G GRCh38
NC_000002.11:g.179433725T>G , CM000664.1:g.179433725T>G GRCh37
NC_000002.10:g.179141971T>G NCBI36
NG_011618.3:g.266805A>C , LRG_391:g.266805A>C
NG_051363.1:g.51172T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69430A>C (TTN) ENSP00000343764.6:p.Arg23144=
ENST00000342175.11:c.50515A>C (TTN) ENSP00000340554.6:p.Arg16839=
ENST00000359218.10:c.50314A>C (TTN) ENSP00000352154.5:p.Arg16772=
ENST00000342175.10:c.50515A>C (TTN) ENSP00000340554.6:p.Arg16839=
ENST00000342992.10:c.69430A>C (TTN) ENSP00000343764.6:p.Arg23144=
ENST00000359218.9:c.50314A>C (TTN) ENSP00000352154.5:p.Arg16772=
ENST00000460472.6:c.49939A>C (TTN) ENSP00000434586.1:p.Arg16647=
ENST00000589042.5:c.77134A>C (TTN) MANE Select ENSP00000467141.1:p.Arg25712=
ENST00000591111.5:c.72211A>C (TTN) ENSP00000465570.1:p.Arg24071=
ENST00000615779.4:c.72211A>C (TTN) ENSP00000483597.1:p.Arg24071=
NM_001256850.1:c.72211A>C (TTN) NP_001243779.1:p.Arg24071=
NM_001267550.2:c.77134A>C (TTN) MANE Select NP_001254479.2:p.Arg25712=
NM_003319.4:c.49939A>C (TTN) NP_003310.4:p.Arg16647=
NM_133378.4:c.69430A>C (TTN) NP_596869.4:p.Arg23144=
NM_133432.3:c.50314A>C (TTN) NP_597676.3:p.Arg16772=
NM_133437.4:c.50515A>C (TTN) NP_597681.4:p.Arg16839=
NR_038271.1:n.447-2302T>G (TTN-AS1)
NR_038272.1:n.2044-13574T>G (TTN-AS1)
XM_011511729.1:c.76231A>C (TTN) XP_011510031.1:p.Arg25411=
XM_011511730.1:c.50125A>C (TTN) XP_011510032.1:p.Arg16709=
XM_011511731.1:c.49984A>C (TTN) XP_011510033.1:p.Arg16662=
XM_017004819.1:c.76027A>C (TTN) XP_016860308.1:p.Arg25343=
XM_017004820.1:c.71425A>C (TTN) XP_016860309.1:p.Arg23809=
XM_017004821.1:c.71422A>C (TTN) XP_016860310.1:p.Arg23808=
XM_017004822.1:c.68464A>C (TTN) XP_016860311.1:p.Arg22822=
XM_017004823.1:c.50080A>C (TTN) XP_016860312.1:p.Arg16694=
XM_024453094.1:c.71575A>C (TTN) XP_024308862.1:p.Arg23859=
XM_024453095.1:c.71572A>C (TTN) XP_024308863.1:p.Arg23858=
XM_024453096.1:c.71005A>C (TTN) XP_024308864.1:p.Arg23669=
XM_024453097.1:c.68347A>C (TTN) XP_024308865.1:p.Arg22783=
XM_024453098.1:c.68266A>C (TTN) XP_024308866.1:p.Arg22756=
XM_024453099.1:c.50029A>C (TTN) XP_024308867.1:p.Arg16677=
XM_024453100.1:c.39883A>C (TTN) XP_024308868.1:p.Arg13295=