Canonical Allele Identifier: CA430244870

Linked Data

MyVariant Identifiers: chr2:g.179414583T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549856T>C , CM000664.2:g.178549856T>C GRCh38
NC_000002.11:g.179414583T>C , CM000664.1:g.179414583T>C GRCh37
NC_000002.10:g.179122829T>C NCBI36
NG_011618.3:g.285947A>G , LRG_391:g.285947A>G
NG_051363.1:g.32030T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84162A>G (TTN) ENSP00000343764.6:p.Lys28054=
ENST00000342175.11:c.65247A>G (TTN) ENSP00000340554.6:p.Lys21749=
ENST00000359218.10:c.65046A>G (TTN) ENSP00000352154.5:p.Lys21682=
ENST00000342175.10:c.65247A>G (TTN) ENSP00000340554.6:p.Lys21749=
ENST00000342992.10:c.84162A>G (TTN) ENSP00000343764.6:p.Lys28054=
ENST00000359218.9:c.65046A>G (TTN) ENSP00000352154.5:p.Lys21682=
ENST00000460472.6:c.64671A>G (TTN) ENSP00000434586.1:p.Lys21557=
ENST00000589042.5:c.91866A>G (TTN) MANE Select ENSP00000467141.1:p.Lys30622=
ENST00000591111.5:c.86943A>G (TTN) ENSP00000465570.1:p.Lys28981=
ENST00000615779.4:c.86943A>G (TTN) ENSP00000483597.1:p.Lys28981=
NM_001256850.1:c.86943A>G (TTN) NP_001243779.1:p.Lys28981=
NM_001267550.2:c.91866A>G (TTN) MANE Select NP_001254479.2:p.Lys30622=
NM_003319.4:c.64671A>G (TTN) NP_003310.4:p.Lys21557=
NM_133378.4:c.84162A>G (TTN) NP_596869.4:p.Lys28054=
NM_133432.3:c.65046A>G (TTN) NP_597676.3:p.Lys21682=
NM_133437.4:c.65247A>G (TTN) NP_597681.4:p.Lys21749=
NR_038271.1:n.447-21444T>C (TTN-AS1)
NR_038272.1:n.2043+7495T>C (TTN-AS1)
XM_011511729.1:c.90963A>G (TTN) XP_011510031.1:p.Lys30321=
XM_011511730.1:c.64857A>G (TTN) XP_011510032.1:p.Lys21619=
XM_011511731.1:c.64716A>G (TTN) XP_011510033.1:p.Lys21572=
XM_017004819.1:c.90759A>G (TTN) XP_016860308.1:p.Lys30253=
XM_017004820.1:c.86157A>G (TTN) XP_016860309.1:p.Lys28719=
XM_017004821.1:c.86154A>G (TTN) XP_016860310.1:p.Lys28718=
XM_017004822.1:c.83196A>G (TTN) XP_016860311.1:p.Lys27732=
XM_017004823.1:c.64812A>G (TTN) XP_016860312.1:p.Lys21604=
XM_024453094.1:c.86307A>G (TTN) XP_024308862.1:p.Lys28769=
XM_024453095.1:c.86304A>G (TTN) XP_024308863.1:p.Lys28768=
XM_024453096.1:c.85737A>G (TTN) XP_024308864.1:p.Lys28579=
XM_024453097.1:c.83079A>G (TTN) XP_024308865.1:p.Lys27693=
XM_024453098.1:c.82998A>G (TTN) XP_024308866.1:p.Lys27666=
XM_024453099.1:c.64761A>G (TTN) XP_024308867.1:p.Lys21587=
XM_024453100.1:c.54615A>G (TTN) XP_024308868.1:p.Lys18205=