Canonical Allele Identifier: CA430244788

Linked Data

MyVariant Identifiers: chr2:g.179414499A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549772A>C , CM000664.2:g.178549772A>C GRCh38
NC_000002.11:g.179414499A>C , CM000664.1:g.179414499A>C GRCh37
NC_000002.10:g.179122745A>C NCBI36
NG_011618.3:g.286031T>G , LRG_391:g.286031T>G
NG_051363.1:g.31946A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84246T>G (TTN) ENSP00000343764.6:p.Ala28082=
ENST00000342175.11:c.65331T>G (TTN) ENSP00000340554.6:p.Ala21777=
ENST00000359218.10:c.65130T>G (TTN) ENSP00000352154.5:p.Ala21710=
ENST00000342175.10:c.65331T>G (TTN) ENSP00000340554.6:p.Ala21777=
ENST00000342992.10:c.84246T>G (TTN) ENSP00000343764.6:p.Ala28082=
ENST00000359218.9:c.65130T>G (TTN) ENSP00000352154.5:p.Ala21710=
ENST00000460472.6:c.64755T>G (TTN) ENSP00000434586.1:p.Ala21585=
ENST00000589042.5:c.91950T>G (TTN) MANE Select ENSP00000467141.1:p.Ala30650=
ENST00000591111.5:c.87027T>G (TTN) ENSP00000465570.1:p.Ala29009=
ENST00000615779.4:c.87027T>G (TTN) ENSP00000483597.1:p.Ala29009=
NM_001256850.1:c.87027T>G (TTN) NP_001243779.1:p.Ala29009=
NM_001267550.2:c.91950T>G (TTN) MANE Select NP_001254479.2:p.Ala30650=
NM_003319.4:c.64755T>G (TTN) NP_003310.4:p.Ala21585=
NM_133378.4:c.84246T>G (TTN) NP_596869.4:p.Ala28082=
NM_133432.3:c.65130T>G (TTN) NP_597676.3:p.Ala21710=
NM_133437.4:c.65331T>G (TTN) NP_597681.4:p.Ala21777=
NR_038271.1:n.447-21528A>C (TTN-AS1)
NR_038272.1:n.2043+7411A>C (TTN-AS1)
XM_011511729.1:c.91047T>G (TTN) XP_011510031.1:p.Ala30349=
XM_011511730.1:c.64941T>G (TTN) XP_011510032.1:p.Ala21647=
XM_011511731.1:c.64800T>G (TTN) XP_011510033.1:p.Ala21600=
XM_017004819.1:c.90843T>G (TTN) XP_016860308.1:p.Ala30281=
XM_017004820.1:c.86241T>G (TTN) XP_016860309.1:p.Ala28747=
XM_017004821.1:c.86238T>G (TTN) XP_016860310.1:p.Ala28746=
XM_017004822.1:c.83280T>G (TTN) XP_016860311.1:p.Ala27760=
XM_017004823.1:c.64896T>G (TTN) XP_016860312.1:p.Ala21632=
XM_024453094.1:c.86391T>G (TTN) XP_024308862.1:p.Ala28797=
XM_024453095.1:c.86388T>G (TTN) XP_024308863.1:p.Ala28796=
XM_024453096.1:c.85821T>G (TTN) XP_024308864.1:p.Ala28607=
XM_024453097.1:c.83163T>G (TTN) XP_024308865.1:p.Ala27721=
XM_024453098.1:c.83082T>G (TTN) XP_024308866.1:p.Ala27694=
XM_024453099.1:c.64845T>G (TTN) XP_024308867.1:p.Ala21615=
XM_024453100.1:c.54699T>G (TTN) XP_024308868.1:p.Ala18233=