Canonical Allele Identifier: CA430241599

Linked Data

MyVariant Identifiers: chr2:g.179408628T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543901T>G , CM000664.2:g.178543901T>G GRCh38
NC_000002.11:g.179408628T>G , CM000664.1:g.179408628T>G GRCh37
NC_000002.10:g.179116874T>G NCBI36
NG_011618.3:g.291902A>C , LRG_391:g.291902A>C
NG_051363.1:g.26075T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88539A>C (TTN) ENSP00000343764.6:p.Gly29513=
ENST00000342175.11:c.69624A>C (TTN) ENSP00000340554.6:p.Gly23208=
ENST00000359218.10:c.69423A>C (TTN) ENSP00000352154.5:p.Gly23141=
ENST00000342175.10:c.69624A>C (TTN) ENSP00000340554.6:p.Gly23208=
ENST00000342992.10:c.88539A>C (TTN) ENSP00000343764.6:p.Gly29513=
ENST00000359218.9:c.69423A>C (TTN) ENSP00000352154.5:p.Gly23141=
ENST00000460472.6:c.69048A>C (TTN) ENSP00000434586.1:p.Gly23016=
ENST00000589042.5:c.96243A>C (TTN) MANE Select ENSP00000467141.1:p.Gly32081=
ENST00000591111.5:c.91320A>C (TTN) ENSP00000465570.1:p.Gly30440=
ENST00000615779.4:c.91320A>C (TTN) ENSP00000483597.1:p.Gly30440=
NM_001256850.1:c.91320A>C (TTN) NP_001243779.1:p.Gly30440=
NM_001267550.2:c.96243A>C (TTN) MANE Select NP_001254479.2:p.Gly32081=
NM_003319.4:c.69048A>C (TTN) NP_003310.4:p.Gly23016=
NM_133378.4:c.88539A>C (TTN) NP_596869.4:p.Gly29513=
NM_133432.3:c.69423A>C (TTN) NP_597676.3:p.Gly23141=
NM_133437.4:c.69624A>C (TTN) NP_597681.4:p.Gly23208=
NR_038271.1:n.446+20265T>G (TTN-AS1)
NR_038272.1:n.2043+1540T>G (TTN-AS1)
XM_011511729.1:c.95340A>C (TTN) XP_011510031.1:p.Gly31780=
XM_011511730.1:c.69234A>C (TTN) XP_011510032.1:p.Gly23078=
XM_011511731.1:c.69093A>C (TTN) XP_011510033.1:p.Gly23031=
XM_017004819.1:c.95136A>C (TTN) XP_016860308.1:p.Gly31712=
XM_017004820.1:c.90534A>C (TTN) XP_016860309.1:p.Gly30178=
XM_017004821.1:c.90531A>C (TTN) XP_016860310.1:p.Gly30177=
XM_017004822.1:c.87573A>C (TTN) XP_016860311.1:p.Gly29191=
XM_017004823.1:c.69189A>C (TTN) XP_016860312.1:p.Gly23063=
XM_024453094.1:c.90684A>C (TTN) XP_024308862.1:p.Gly30228=
XM_024453095.1:c.90681A>C (TTN) XP_024308863.1:p.Gly30227=
XM_024453096.1:c.90114A>C (TTN) XP_024308864.1:p.Gly30038=
XM_024453097.1:c.87456A>C (TTN) XP_024308865.1:p.Gly29152=
XM_024453098.1:c.87375A>C (TTN) XP_024308866.1:p.Gly29125=
XM_024453099.1:c.69138A>C (TTN) XP_024308867.1:p.Gly23046=
XM_024453100.1:c.58992A>C (TTN) XP_024308868.1:p.Gly19664=