Canonical Allele Identifier: CA430245141

Linked Data

MyVariant Identifiers: chr2:g.179416463T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551736T>C , CM000664.2:g.178551736T>C GRCh38
NC_000002.11:g.179416463T>C , CM000664.1:g.179416463T>C GRCh37
NC_000002.10:g.179124709T>C NCBI36
NG_011618.3:g.284067A>G , LRG_391:g.284067A>G
NG_051363.1:g.33910T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83460A>G (TTN) ENSP00000343764.6:p.Gly27820=
ENST00000342175.11:c.64545A>G (TTN) ENSP00000340554.6:p.Gly21515=
ENST00000359218.10:c.64344A>G (TTN) ENSP00000352154.5:p.Gly21448=
ENST00000342175.10:c.64545A>G (TTN) ENSP00000340554.6:p.Gly21515=
ENST00000342992.10:c.83460A>G (TTN) ENSP00000343764.6:p.Gly27820=
ENST00000359218.9:c.64344A>G (TTN) ENSP00000352154.5:p.Gly21448=
ENST00000460472.6:c.63969A>G (TTN) ENSP00000434586.1:p.Gly21323=
ENST00000589042.5:c.91164A>G (TTN) MANE Select ENSP00000467141.1:p.Gly30388=
ENST00000591111.5:c.86241A>G (TTN) ENSP00000465570.1:p.Gly28747=
ENST00000615779.4:c.86241A>G (TTN) ENSP00000483597.1:p.Gly28747=
NM_001256850.1:c.86241A>G (TTN) NP_001243779.1:p.Gly28747=
NM_001267550.2:c.91164A>G (TTN) MANE Select NP_001254479.2:p.Gly30388=
NM_003319.4:c.63969A>G (TTN) NP_003310.4:p.Gly21323=
NM_133378.4:c.83460A>G (TTN) NP_596869.4:p.Gly27820=
NM_133432.3:c.64344A>G (TTN) NP_597676.3:p.Gly21448=
NM_133437.4:c.64545A>G (TTN) NP_597681.4:p.Gly21515=
NR_038271.1:n.447-19564T>C (TTN-AS1)
NR_038272.1:n.2043+9375T>C (TTN-AS1)
XM_011511729.1:c.90261A>G (TTN) XP_011510031.1:p.Gly30087=
XM_011511730.1:c.64155A>G (TTN) XP_011510032.1:p.Gly21385=
XM_011511731.1:c.64014A>G (TTN) XP_011510033.1:p.Gly21338=
XM_017004819.1:c.90057A>G (TTN) XP_016860308.1:p.Gly30019=
XM_017004820.1:c.85455A>G (TTN) XP_016860309.1:p.Gly28485=
XM_017004821.1:c.85452A>G (TTN) XP_016860310.1:p.Gly28484=
XM_017004822.1:c.82494A>G (TTN) XP_016860311.1:p.Gly27498=
XM_017004823.1:c.64110A>G (TTN) XP_016860312.1:p.Gly21370=
XM_024453094.1:c.85605A>G (TTN) XP_024308862.1:p.Gly28535=
XM_024453095.1:c.85602A>G (TTN) XP_024308863.1:p.Gly28534=
XM_024453096.1:c.85035A>G (TTN) XP_024308864.1:p.Gly28345=
XM_024453097.1:c.82377A>G (TTN) XP_024308865.1:p.Gly27459=
XM_024453098.1:c.82296A>G (TTN) XP_024308866.1:p.Gly27432=
XM_024453099.1:c.64059A>G (TTN) XP_024308867.1:p.Gly21353=
XM_024453100.1:c.53913A>G (TTN) XP_024308868.1:p.Gly17971=