Canonical Allele Identifier: CA430267919

Linked Data

MyVariant Identifiers: chr2:g.179458755G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178594028G>C , CM000664.2:g.178594028G>C GRCh38
NC_000002.11:g.179458755G>C , CM000664.1:g.179458755G>C GRCh37
NC_000002.10:g.179167001G>C NCBI36
NG_011618.3:g.241775C>G , LRG_391:g.241775C>G
NG_051363.1:g.76202G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.50661C>G (TTN) ENSP00000343764.6:p.Gly16887=
ENST00000342175.11:c.31746C>G (TTN) ENSP00000340554.6:p.Gly10582=
ENST00000359218.10:c.31545C>G (TTN) ENSP00000352154.5:p.Gly10515=
ENST00000342175.10:c.31746C>G (TTN) ENSP00000340554.6:p.Gly10582=
ENST00000342992.10:c.50661C>G (TTN) ENSP00000343764.6:p.Gly16887=
ENST00000359218.9:c.31545C>G (TTN) ENSP00000352154.5:p.Gly10515=
ENST00000460472.6:c.31170C>G (TTN) ENSP00000434586.1:p.Gly10390=
ENST00000589042.5:c.58365C>G (TTN) MANE Select ENSP00000467141.1:p.Gly19455=
ENST00000591111.5:c.53442C>G (TTN) ENSP00000465570.1:p.Gly17814=
ENST00000615779.4:c.53442C>G (TTN) ENSP00000483597.1:p.Gly17814=
NM_001256850.1:c.53442C>G (TTN) NP_001243779.1:p.Gly17814=
NM_001267550.2:c.58365C>G (TTN) MANE Select NP_001254479.2:p.Gly19455=
NM_003319.4:c.31170C>G (TTN) NP_003310.4:p.Gly10390=
NM_133378.4:c.50661C>G (TTN) NP_596869.4:p.Gly16887=
NM_133432.3:c.31545C>G (TTN) NP_597676.3:p.Gly10515=
NM_133437.4:c.31746C>G (TTN) NP_597681.4:p.Gly10582=
NR_038271.1:n.597-3568G>C (TTN-AS1)
NR_038272.1:n.3364+2714G>C (TTN-AS1)
XM_011511729.1:c.57462C>G (TTN) XP_011510031.1:p.Gly19154=
XM_011511730.1:c.31356C>G (TTN) XP_011510032.1:p.Gly10452=
XM_011511731.1:c.31215C>G (TTN) XP_011510033.1:p.Gly10405=
XM_017004819.1:c.57258C>G (TTN) XP_016860308.1:p.Gly19086=
XM_017004820.1:c.52656C>G (TTN) XP_016860309.1:p.Gly17552=
XM_017004821.1:c.52653C>G (TTN) XP_016860310.1:p.Gly17551=
XM_017004822.1:c.49695C>G (TTN) XP_016860311.1:p.Gly16565=
XM_017004823.1:c.31311C>G (TTN) XP_016860312.1:p.Gly10437=
XM_024453094.1:c.52806C>G (TTN) XP_024308862.1:p.Gly17602=
XM_024453095.1:c.52803C>G (TTN) XP_024308863.1:p.Gly17601=
XM_024453096.1:c.52236C>G (TTN) XP_024308864.1:p.Gly17412=
XM_024453097.1:c.49578C>G (TTN) XP_024308865.1:p.Gly16526=
XM_024453098.1:c.49497C>G (TTN) XP_024308866.1:p.Gly16499=
XM_024453099.1:c.31260C>G (TTN) XP_024308867.1:p.Gly10420=
XM_024453100.1:c.21114C>G (TTN) XP_024308868.1:p.Gly7038=