Canonical Allele Identifier: CA430267870

Linked Data

MyVariant Identifiers: chr2:g.179457794A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593067A>T , CM000664.2:g.178593067A>T GRCh38
NC_000002.11:g.179457794A>T , CM000664.1:g.179457794A>T GRCh37
NC_000002.10:g.179166040A>T NCBI36
NG_011618.3:g.242736T>A , LRG_391:g.242736T>A
NG_051363.1:g.75241A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51348T>A (TTN) ENSP00000343764.6:p.Pro17116=
ENST00000342175.11:c.32433T>A (TTN) ENSP00000340554.6:p.Pro10811=
ENST00000359218.10:c.32232T>A (TTN) ENSP00000352154.5:p.Pro10744=
ENST00000342175.10:c.32433T>A (TTN) ENSP00000340554.6:p.Pro10811=
ENST00000342992.10:c.51348T>A (TTN) ENSP00000343764.6:p.Pro17116=
ENST00000359218.9:c.32232T>A (TTN) ENSP00000352154.5:p.Pro10744=
ENST00000460472.6:c.31857T>A (TTN) ENSP00000434586.1:p.Pro10619=
ENST00000589042.5:c.59052T>A (TTN) MANE Select ENSP00000467141.1:p.Pro19684=
ENST00000591111.5:c.54129T>A (TTN) ENSP00000465570.1:p.Pro18043=
ENST00000615779.4:c.54129T>A (TTN) ENSP00000483597.1:p.Pro18043=
NM_001256850.1:c.54129T>A (TTN) NP_001243779.1:p.Pro18043=
NM_001267550.2:c.59052T>A (TTN) MANE Select NP_001254479.2:p.Pro19684=
NM_003319.4:c.31857T>A (TTN) NP_003310.4:p.Pro10619=
NM_133378.4:c.51348T>A (TTN) NP_596869.4:p.Pro17116=
NM_133432.3:c.32232T>A (TTN) NP_597676.3:p.Pro10744=
NM_133437.4:c.32433T>A (TTN) NP_597681.4:p.Pro10811=
NR_038271.1:n.597-4529A>T (TTN-AS1)
NR_038272.1:n.3364+1753A>T (TTN-AS1)
XM_011511729.1:c.58149T>A (TTN) XP_011510031.1:p.Pro19383=
XM_011511730.1:c.32043T>A (TTN) XP_011510032.1:p.Pro10681=
XM_011511731.1:c.31902T>A (TTN) XP_011510033.1:p.Pro10634=
XM_017004819.1:c.57945T>A (TTN) XP_016860308.1:p.Pro19315=
XM_017004820.1:c.53343T>A (TTN) XP_016860309.1:p.Pro17781=
XM_017004821.1:c.53340T>A (TTN) XP_016860310.1:p.Pro17780=
XM_017004822.1:c.50382T>A (TTN) XP_016860311.1:p.Pro16794=
XM_017004823.1:c.31998T>A (TTN) XP_016860312.1:p.Pro10666=
XM_024453094.1:c.53493T>A (TTN) XP_024308862.1:p.Pro17831=
XM_024453095.1:c.53490T>A (TTN) XP_024308863.1:p.Pro17830=
XM_024453096.1:c.52923T>A (TTN) XP_024308864.1:p.Pro17641=
XM_024453097.1:c.50265T>A (TTN) XP_024308865.1:p.Pro16755=
XM_024453098.1:c.50184T>A (TTN) XP_024308866.1:p.Pro16728=
XM_024453099.1:c.31947T>A (TTN) XP_024308867.1:p.Pro10649=
XM_024453100.1:c.21801T>A (TTN) XP_024308868.1:p.Pro7267=