Canonical Allele Identifier: CA430252725

Linked Data

MyVariant Identifiers: chr2:g.179432121A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567394A>G , CM000664.2:g.178567394A>G GRCh38
NC_000002.11:g.179432121A>G , CM000664.1:g.179432121A>G GRCh37
NC_000002.10:g.179140367A>G NCBI36
NG_011618.3:g.268409T>C , LRG_391:g.268409T>C
NG_051363.1:g.49568A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71034T>C (TTN) ENSP00000343764.6:p.Asp23678=
ENST00000342175.11:c.52119T>C (TTN) ENSP00000340554.6:p.Asp17373=
ENST00000359218.10:c.51918T>C (TTN) ENSP00000352154.5:p.Asp17306=
ENST00000342175.10:c.52119T>C (TTN) ENSP00000340554.6:p.Asp17373=
ENST00000342992.10:c.71034T>C (TTN) ENSP00000343764.6:p.Asp23678=
ENST00000359218.9:c.51918T>C (TTN) ENSP00000352154.5:p.Asp17306=
ENST00000460472.6:c.51543T>C (TTN) ENSP00000434586.1:p.Asp17181=
ENST00000589042.5:c.78738T>C (TTN) MANE Select ENSP00000467141.1:p.Asp26246=
ENST00000591111.5:c.73815T>C (TTN) ENSP00000465570.1:p.Asp24605=
ENST00000615779.4:c.73815T>C (TTN) ENSP00000483597.1:p.Asp24605=
NM_001256850.1:c.73815T>C (TTN) NP_001243779.1:p.Asp24605=
NM_001267550.2:c.78738T>C (TTN) MANE Select NP_001254479.2:p.Asp26246=
NM_003319.4:c.51543T>C (TTN) NP_003310.4:p.Asp17181=
NM_133378.4:c.71034T>C (TTN) NP_596869.4:p.Asp23678=
NM_133432.3:c.51918T>C (TTN) NP_597676.3:p.Asp17306=
NM_133437.4:c.52119T>C (TTN) NP_597681.4:p.Asp17373=
NR_038271.1:n.447-3906A>G (TTN-AS1)
NR_038272.1:n.2044-15178A>G (TTN-AS1)
XM_011511729.1:c.77835T>C (TTN) XP_011510031.1:p.Asp25945=
XM_011511730.1:c.51729T>C (TTN) XP_011510032.1:p.Asp17243=
XM_011511731.1:c.51588T>C (TTN) XP_011510033.1:p.Asp17196=
XM_017004819.1:c.77631T>C (TTN) XP_016860308.1:p.Asp25877=
XM_017004820.1:c.73029T>C (TTN) XP_016860309.1:p.Asp24343=
XM_017004821.1:c.73026T>C (TTN) XP_016860310.1:p.Asp24342=
XM_017004822.1:c.70068T>C (TTN) XP_016860311.1:p.Asp23356=
XM_017004823.1:c.51684T>C (TTN) XP_016860312.1:p.Asp17228=
XM_024453094.1:c.73179T>C (TTN) XP_024308862.1:p.Asp24393=
XM_024453095.1:c.73176T>C (TTN) XP_024308863.1:p.Asp24392=
XM_024453096.1:c.72609T>C (TTN) XP_024308864.1:p.Asp24203=
XM_024453097.1:c.69951T>C (TTN) XP_024308865.1:p.Asp23317=
XM_024453098.1:c.69870T>C (TTN) XP_024308866.1:p.Asp23290=
XM_024453099.1:c.51633T>C (TTN) XP_024308867.1:p.Asp17211=
XM_024453100.1:c.41487T>C (TTN) XP_024308868.1:p.Asp13829=