Canonical Allele Identifier: CA430259587

Linked Data

MyVariant Identifiers: chr2:g.179442621A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577894A>T , CM000664.2:g.178577894A>T GRCh38
NC_000002.11:g.179442621A>T , CM000664.1:g.179442621A>T GRCh37
NC_000002.10:g.179150867A>T NCBI36
NG_011618.3:g.257909T>A , LRG_391:g.257909T>A
NG_051363.1:g.60068A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60828T>A (TTN) ENSP00000343764.6:p.Pro20276=
ENST00000342175.11:c.41913T>A (TTN) ENSP00000340554.6:p.Pro13971=
ENST00000359218.10:c.41712T>A (TTN) ENSP00000352154.5:p.Pro13904=
ENST00000342175.10:c.41913T>A (TTN) ENSP00000340554.6:p.Pro13971=
ENST00000342992.10:c.60828T>A (TTN) ENSP00000343764.6:p.Pro20276=
ENST00000359218.9:c.41712T>A (TTN) ENSP00000352154.5:p.Pro13904=
ENST00000460472.6:c.41337T>A (TTN) ENSP00000434586.1:p.Pro13779=
ENST00000589042.5:c.68532T>A (TTN) MANE Select ENSP00000467141.1:p.Pro22844=
ENST00000591111.5:c.63609T>A (TTN) ENSP00000465570.1:p.Pro21203=
ENST00000615779.4:c.63609T>A (TTN) ENSP00000483597.1:p.Pro21203=
NM_001256850.1:c.63609T>A (TTN) NP_001243779.1:p.Pro21203=
NM_001267550.2:c.68532T>A (TTN) MANE Select NP_001254479.2:p.Pro22844=
NM_003319.4:c.41337T>A (TTN) NP_003310.4:p.Pro13779=
NM_133378.4:c.60828T>A (TTN) NP_596869.4:p.Pro20276=
NM_133432.3:c.41712T>A (TTN) NP_597676.3:p.Pro13904=
NM_133437.4:c.41913T>A (TTN) NP_597681.4:p.Pro13971=
NR_038271.1:n.596+6445A>T (TTN-AS1)
NR_038272.1:n.2044-4678A>T (TTN-AS1)
XM_011511729.1:c.67629T>A (TTN) XP_011510031.1:p.Pro22543=
XM_011511730.1:c.41523T>A (TTN) XP_011510032.1:p.Pro13841=
XM_011511731.1:c.41382T>A (TTN) XP_011510033.1:p.Pro13794=
XM_017004819.1:c.67425T>A (TTN) XP_016860308.1:p.Pro22475=
XM_017004820.1:c.62823T>A (TTN) XP_016860309.1:p.Pro20941=
XM_017004821.1:c.62820T>A (TTN) XP_016860310.1:p.Pro20940=
XM_017004822.1:c.59862T>A (TTN) XP_016860311.1:p.Pro19954=
XM_017004823.1:c.41478T>A (TTN) XP_016860312.1:p.Pro13826=
XM_024453094.1:c.62973T>A (TTN) XP_024308862.1:p.Pro20991=
XM_024453095.1:c.62970T>A (TTN) XP_024308863.1:p.Pro20990=
XM_024453096.1:c.62403T>A (TTN) XP_024308864.1:p.Pro20801=
XM_024453097.1:c.59745T>A (TTN) XP_024308865.1:p.Pro19915=
XM_024453098.1:c.59664T>A (TTN) XP_024308866.1:p.Pro19888=
XM_024453099.1:c.41427T>A (TTN) XP_024308867.1:p.Pro13809=
XM_024453100.1:c.31281T>A (TTN) XP_024308868.1:p.Pro10427=