Canonical Allele Identifier: CA430240503

Linked Data

MyVariant Identifiers: chr2:g.179404674A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539947A>T , CM000664.2:g.178539947A>T GRCh38
NC_000002.11:g.179404674A>T , CM000664.1:g.179404674A>T GRCh37
NC_000002.10:g.179112920A>T NCBI36
NG_011618.3:g.295856T>A , LRG_391:g.295856T>A
NG_051363.1:g.22121A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90414T>A (TTN) ENSP00000343764.6:p.Leu30138=
ENST00000342175.11:c.71499T>A (TTN) ENSP00000340554.6:p.Leu23833=
ENST00000359218.10:c.71298T>A (TTN) ENSP00000352154.5:p.Leu23766=
ENST00000342175.10:c.71499T>A (TTN) ENSP00000340554.6:p.Leu23833=
ENST00000342992.10:c.90414T>A (TTN) ENSP00000343764.6:p.Leu30138=
ENST00000359218.9:c.71298T>A (TTN) ENSP00000352154.5:p.Leu23766=
ENST00000460472.6:c.70923T>A (TTN) ENSP00000434586.1:p.Leu23641=
ENST00000589042.5:c.98118T>A (TTN) MANE Select ENSP00000467141.1:p.Leu32706=
ENST00000591111.5:c.93195T>A (TTN) ENSP00000465570.1:p.Leu31065=
ENST00000615779.4:c.93195T>A (TTN) ENSP00000483597.1:p.Leu31065=
NM_001256850.1:c.93195T>A (TTN) NP_001243779.1:p.Leu31065=
NM_001267550.2:c.98118T>A (TTN) MANE Select NP_001254479.2:p.Leu32706=
NM_003319.4:c.70923T>A (TTN) NP_003310.4:p.Leu23641=
NM_133378.4:c.90414T>A (TTN) NP_596869.4:p.Leu30138=
NM_133432.3:c.71298T>A (TTN) NP_597676.3:p.Leu23766=
NM_133437.4:c.71499T>A (TTN) NP_597681.4:p.Leu23833=
NR_038271.1:n.446+16311A>T (TTN-AS1)
NR_038272.1:n.1840+57A>T (TTN-AS1)
XM_011511729.1:c.97215T>A (TTN) XP_011510031.1:p.Leu32405=
XM_011511730.1:c.71109T>A (TTN) XP_011510032.1:p.Leu23703=
XM_011511731.1:c.70968T>A (TTN) XP_011510033.1:p.Leu23656=
XM_017004819.1:c.97011T>A (TTN) XP_016860308.1:p.Leu32337=
XM_017004820.1:c.92409T>A (TTN) XP_016860309.1:p.Leu30803=
XM_017004821.1:c.92406T>A (TTN) XP_016860310.1:p.Leu30802=
XM_017004822.1:c.89448T>A (TTN) XP_016860311.1:p.Leu29816=
XM_017004823.1:c.71064T>A (TTN) XP_016860312.1:p.Leu23688=
XM_024453094.1:c.92559T>A (TTN) XP_024308862.1:p.Leu30853=
XM_024453095.1:c.92556T>A (TTN) XP_024308863.1:p.Leu30852=
XM_024453096.1:c.91989T>A (TTN) XP_024308864.1:p.Leu30663=
XM_024453097.1:c.89331T>A (TTN) XP_024308865.1:p.Leu29777=
XM_024453098.1:c.89250T>A (TTN) XP_024308866.1:p.Leu29750=
XM_024453099.1:c.71013T>A (TTN) XP_024308867.1:p.Leu23671=
XM_024453100.1:c.60867T>A (TTN) XP_024308868.1:p.Leu20289=