Canonical Allele Identifier: CA430267875

Linked Data

MyVariant Identifiers: chr2:g.179457803T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593076T>A , CM000664.2:g.178593076T>A GRCh38
NC_000002.11:g.179457803T>A , CM000664.1:g.179457803T>A GRCh37
NC_000002.10:g.179166049T>A NCBI36
NG_011618.3:g.242727A>T , LRG_391:g.242727A>T
NG_051363.1:g.75250T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51339A>T (TTN) ENSP00000343764.6:p.Pro17113=
ENST00000342175.11:c.32424A>T (TTN) ENSP00000340554.6:p.Pro10808=
ENST00000359218.10:c.32223A>T (TTN) ENSP00000352154.5:p.Pro10741=
ENST00000342175.10:c.32424A>T (TTN) ENSP00000340554.6:p.Pro10808=
ENST00000342992.10:c.51339A>T (TTN) ENSP00000343764.6:p.Pro17113=
ENST00000359218.9:c.32223A>T (TTN) ENSP00000352154.5:p.Pro10741=
ENST00000460472.6:c.31848A>T (TTN) ENSP00000434586.1:p.Pro10616=
ENST00000589042.5:c.59043A>T (TTN) MANE Select ENSP00000467141.1:p.Pro19681=
ENST00000591111.5:c.54120A>T (TTN) ENSP00000465570.1:p.Pro18040=
ENST00000615779.4:c.54120A>T (TTN) ENSP00000483597.1:p.Pro18040=
NM_001256850.1:c.54120A>T (TTN) NP_001243779.1:p.Pro18040=
NM_001267550.2:c.59043A>T (TTN) MANE Select NP_001254479.2:p.Pro19681=
NM_003319.4:c.31848A>T (TTN) NP_003310.4:p.Pro10616=
NM_133378.4:c.51339A>T (TTN) NP_596869.4:p.Pro17113=
NM_133432.3:c.32223A>T (TTN) NP_597676.3:p.Pro10741=
NM_133437.4:c.32424A>T (TTN) NP_597681.4:p.Pro10808=
NR_038271.1:n.597-4520T>A (TTN-AS1)
NR_038272.1:n.3364+1762T>A (TTN-AS1)
XM_011511729.1:c.58140A>T (TTN) XP_011510031.1:p.Pro19380=
XM_011511730.1:c.32034A>T (TTN) XP_011510032.1:p.Pro10678=
XM_011511731.1:c.31893A>T (TTN) XP_011510033.1:p.Pro10631=
XM_017004819.1:c.57936A>T (TTN) XP_016860308.1:p.Pro19312=
XM_017004820.1:c.53334A>T (TTN) XP_016860309.1:p.Pro17778=
XM_017004821.1:c.53331A>T (TTN) XP_016860310.1:p.Pro17777=
XM_017004822.1:c.50373A>T (TTN) XP_016860311.1:p.Pro16791=
XM_017004823.1:c.31989A>T (TTN) XP_016860312.1:p.Pro10663=
XM_024453094.1:c.53484A>T (TTN) XP_024308862.1:p.Pro17828=
XM_024453095.1:c.53481A>T (TTN) XP_024308863.1:p.Pro17827=
XM_024453096.1:c.52914A>T (TTN) XP_024308864.1:p.Pro17638=
XM_024453097.1:c.50256A>T (TTN) XP_024308865.1:p.Pro16752=
XM_024453098.1:c.50175A>T (TTN) XP_024308866.1:p.Pro16725=
XM_024453099.1:c.31938A>T (TTN) XP_024308867.1:p.Pro10646=
XM_024453100.1:c.21792A>T (TTN) XP_024308868.1:p.Pro7264=