Canonical Allele Identifier: CA430242433

Linked Data

MyVariant Identifiers: chr2:g.179411445G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546718G>C , CM000664.2:g.178546718G>C GRCh38
NC_000002.11:g.179411445G>C , CM000664.1:g.179411445G>C GRCh37
NC_000002.10:g.179119691G>C NCBI36
NG_011618.3:g.289085C>G , LRG_391:g.289085C>G
NG_051363.1:g.28892G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87006C>G (TTN) ENSP00000343764.6:p.Thr29002=
ENST00000342175.11:c.68091C>G (TTN) ENSP00000340554.6:p.Thr22697=
ENST00000359218.10:c.67890C>G (TTN) ENSP00000352154.5:p.Thr22630=
ENST00000342175.10:c.68091C>G (TTN) ENSP00000340554.6:p.Thr22697=
ENST00000342992.10:c.87006C>G (TTN) ENSP00000343764.6:p.Thr29002=
ENST00000359218.9:c.67890C>G (TTN) ENSP00000352154.5:p.Thr22630=
ENST00000460472.6:c.67515C>G (TTN) ENSP00000434586.1:p.Thr22505=
ENST00000589042.5:c.94710C>G (TTN) MANE Select ENSP00000467141.1:p.Thr31570=
ENST00000591111.5:c.89787C>G (TTN) ENSP00000465570.1:p.Thr29929=
ENST00000615779.4:c.89787C>G (TTN) ENSP00000483597.1:p.Thr29929=
NM_001256850.1:c.89787C>G (TTN) NP_001243779.1:p.Thr29929=
NM_001267550.2:c.94710C>G (TTN) MANE Select NP_001254479.2:p.Thr31570=
NM_003319.4:c.67515C>G (TTN) NP_003310.4:p.Thr22505=
NM_133378.4:c.87006C>G (TTN) NP_596869.4:p.Thr29002=
NM_133432.3:c.67890C>G (TTN) NP_597676.3:p.Thr22630=
NM_133437.4:c.68091C>G (TTN) NP_597681.4:p.Thr22697=
NR_038271.1:n.446+23082G>C (TTN-AS1)
NR_038272.1:n.2043+4357G>C (TTN-AS1)
XM_011511729.1:c.93807C>G (TTN) XP_011510031.1:p.Thr31269=
XM_011511730.1:c.67701C>G (TTN) XP_011510032.1:p.Thr22567=
XM_011511731.1:c.67560C>G (TTN) XP_011510033.1:p.Thr22520=
XM_017004819.1:c.93603C>G (TTN) XP_016860308.1:p.Thr31201=
XM_017004820.1:c.89001C>G (TTN) XP_016860309.1:p.Thr29667=
XM_017004821.1:c.88998C>G (TTN) XP_016860310.1:p.Thr29666=
XM_017004822.1:c.86040C>G (TTN) XP_016860311.1:p.Thr28680=
XM_017004823.1:c.67656C>G (TTN) XP_016860312.1:p.Thr22552=
XM_024453094.1:c.89151C>G (TTN) XP_024308862.1:p.Thr29717=
XM_024453095.1:c.89148C>G (TTN) XP_024308863.1:p.Thr29716=
XM_024453096.1:c.88581C>G (TTN) XP_024308864.1:p.Thr29527=
XM_024453097.1:c.85923C>G (TTN) XP_024308865.1:p.Thr28641=
XM_024453098.1:c.85842C>G (TTN) XP_024308866.1:p.Thr28614=
XM_024453099.1:c.67605C>G (TTN) XP_024308867.1:p.Thr22535=
XM_024453100.1:c.57459C>G (TTN) XP_024308868.1:p.Thr19153=