Canonical Allele Identifier: CA430245456

Linked Data

MyVariant Identifiers: chr2:g.179417288A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552561A>G , CM000664.2:g.178552561A>G GRCh38
NC_000002.11:g.179417288A>G , CM000664.1:g.179417288A>G GRCh37
NC_000002.10:g.179125534A>G NCBI36
NG_011618.3:g.283242T>C , LRG_391:g.283242T>C
NG_051363.1:g.34735A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82635T>C (TTN) ENSP00000343764.6:p.Asp27545=
ENST00000342175.11:c.63720T>C (TTN) ENSP00000340554.6:p.Asp21240=
ENST00000359218.10:c.63519T>C (TTN) ENSP00000352154.5:p.Asp21173=
ENST00000342175.10:c.63720T>C (TTN) ENSP00000340554.6:p.Asp21240=
ENST00000342992.10:c.82635T>C (TTN) ENSP00000343764.6:p.Asp27545=
ENST00000359218.9:c.63519T>C (TTN) ENSP00000352154.5:p.Asp21173=
ENST00000460472.6:c.63144T>C (TTN) ENSP00000434586.1:p.Asp21048=
ENST00000589042.5:c.90339T>C (TTN) MANE Select ENSP00000467141.1:p.Asp30113=
ENST00000591111.5:c.85416T>C (TTN) ENSP00000465570.1:p.Asp28472=
ENST00000615779.4:c.85416T>C (TTN) ENSP00000483597.1:p.Asp28472=
NM_001256850.1:c.85416T>C (TTN) NP_001243779.1:p.Asp28472=
NM_001267550.2:c.90339T>C (TTN) MANE Select NP_001254479.2:p.Asp30113=
NM_003319.4:c.63144T>C (TTN) NP_003310.4:p.Asp21048=
NM_133378.4:c.82635T>C (TTN) NP_596869.4:p.Asp27545=
NM_133432.3:c.63519T>C (TTN) NP_597676.3:p.Asp21173=
NM_133437.4:c.63720T>C (TTN) NP_597681.4:p.Asp21240=
NR_038271.1:n.447-18739A>G (TTN-AS1)
NR_038272.1:n.2043+10200A>G (TTN-AS1)
XM_011511729.1:c.89436T>C (TTN) XP_011510031.1:p.Asp29812=
XM_011511730.1:c.63330T>C (TTN) XP_011510032.1:p.Asp21110=
XM_011511731.1:c.63189T>C (TTN) XP_011510033.1:p.Asp21063=
XM_017004819.1:c.89232T>C (TTN) XP_016860308.1:p.Asp29744=
XM_017004820.1:c.84630T>C (TTN) XP_016860309.1:p.Asp28210=
XM_017004821.1:c.84627T>C (TTN) XP_016860310.1:p.Asp28209=
XM_017004822.1:c.81669T>C (TTN) XP_016860311.1:p.Asp27223=
XM_017004823.1:c.63285T>C (TTN) XP_016860312.1:p.Asp21095=
XM_024453094.1:c.84780T>C (TTN) XP_024308862.1:p.Asp28260=
XM_024453095.1:c.84777T>C (TTN) XP_024308863.1:p.Asp28259=
XM_024453096.1:c.84210T>C (TTN) XP_024308864.1:p.Asp28070=
XM_024453097.1:c.81552T>C (TTN) XP_024308865.1:p.Asp27184=
XM_024453098.1:c.81471T>C (TTN) XP_024308866.1:p.Asp27157=
XM_024453099.1:c.63234T>C (TTN) XP_024308867.1:p.Asp21078=
XM_024453100.1:c.53088T>C (TTN) XP_024308868.1:p.Asp17696=