Canonical Allele Identifier: CA430254905

Linked Data

MyVariant Identifiers: chr2:g.179435280T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570553T>C , CM000664.2:g.178570553T>C GRCh38
NC_000002.11:g.179435280T>C , CM000664.1:g.179435280T>C GRCh37
NC_000002.10:g.179143526T>C NCBI36
NG_011618.3:g.265250A>G , LRG_391:g.265250A>G
NG_051363.1:g.52727T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67875A>G (TTN) ENSP00000343764.6:p.Arg22625=
ENST00000342175.11:c.48960A>G (TTN) ENSP00000340554.6:p.Arg16320=
ENST00000359218.10:c.48759A>G (TTN) ENSP00000352154.5:p.Arg16253=
ENST00000342175.10:c.48960A>G (TTN) ENSP00000340554.6:p.Arg16320=
ENST00000342992.10:c.67875A>G (TTN) ENSP00000343764.6:p.Arg22625=
ENST00000359218.9:c.48759A>G (TTN) ENSP00000352154.5:p.Arg16253=
ENST00000460472.6:c.48384A>G (TTN) ENSP00000434586.1:p.Arg16128=
ENST00000589042.5:c.75579A>G (TTN) MANE Select ENSP00000467141.1:p.Arg25193=
ENST00000591111.5:c.70656A>G (TTN) ENSP00000465570.1:p.Arg23552=
ENST00000615779.4:c.70656A>G (TTN) ENSP00000483597.1:p.Arg23552=
NM_001256850.1:c.70656A>G (TTN) NP_001243779.1:p.Arg23552=
NM_001267550.2:c.75579A>G (TTN) MANE Select NP_001254479.2:p.Arg25193=
NM_003319.4:c.48384A>G (TTN) NP_003310.4:p.Arg16128=
NM_133378.4:c.67875A>G (TTN) NP_596869.4:p.Arg22625=
NM_133432.3:c.48759A>G (TTN) NP_597676.3:p.Arg16253=
NM_133437.4:c.48960A>G (TTN) NP_597681.4:p.Arg16320=
NR_038271.1:n.447-747T>C (TTN-AS1)
NR_038272.1:n.2044-12019T>C (TTN-AS1)
XM_011511729.1:c.74676A>G (TTN) XP_011510031.1:p.Arg24892=
XM_011511730.1:c.48570A>G (TTN) XP_011510032.1:p.Arg16190=
XM_011511731.1:c.48429A>G (TTN) XP_011510033.1:p.Arg16143=
XM_017004819.1:c.74472A>G (TTN) XP_016860308.1:p.Arg24824=
XM_017004820.1:c.69870A>G (TTN) XP_016860309.1:p.Arg23290=
XM_017004821.1:c.69867A>G (TTN) XP_016860310.1:p.Arg23289=
XM_017004822.1:c.66909A>G (TTN) XP_016860311.1:p.Arg22303=
XM_017004823.1:c.48525A>G (TTN) XP_016860312.1:p.Arg16175=
XM_024453094.1:c.70020A>G (TTN) XP_024308862.1:p.Arg23340=
XM_024453095.1:c.70017A>G (TTN) XP_024308863.1:p.Arg23339=
XM_024453096.1:c.69450A>G (TTN) XP_024308864.1:p.Arg23150=
XM_024453097.1:c.66792A>G (TTN) XP_024308865.1:p.Arg22264=
XM_024453098.1:c.66711A>G (TTN) XP_024308866.1:p.Arg22237=
XM_024453099.1:c.48474A>G (TTN) XP_024308867.1:p.Arg16158=
XM_024453100.1:c.38328A>G (TTN) XP_024308868.1:p.Arg12776=