Canonical Allele Identifier: CA430235064

Linked Data

MyVariant Identifiers: chr2:g.179395007T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530280T>C , CM000664.2:g.178530280T>C GRCh38
NC_000002.11:g.179395007T>C , CM000664.1:g.179395007T>C GRCh37
NC_000002.10:g.179103253T>C NCBI36
NG_011618.3:g.305523A>G , LRG_391:g.305523A>G
NG_051363.1:g.12454T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98631A>G (TTN) ENSP00000343764.6:p.Gly32877=
ENST00000342175.11:c.79716A>G (TTN) ENSP00000340554.6:p.Gly26572=
ENST00000359218.10:c.79515A>G (TTN) ENSP00000352154.5:p.Gly26505=
ENST00000342175.10:c.79716A>G (TTN) ENSP00000340554.6:p.Gly26572=
ENST00000342992.10:c.98631A>G (TTN) ENSP00000343764.6:p.Gly32877=
ENST00000359218.9:c.79515A>G (TTN) ENSP00000352154.5:p.Gly26505=
ENST00000460472.6:c.79140A>G (TTN) ENSP00000434586.1:p.Gly26380=
ENST00000589042.5:c.106335A>G (TTN) MANE Select ENSP00000467141.1:p.Gly35445=
ENST00000591111.5:c.101412A>G (TTN) ENSP00000465570.1:p.Gly33804=
ENST00000615779.4:c.101412A>G (TTN) ENSP00000483597.1:p.Gly33804=
NM_001256850.1:c.101412A>G (TTN) NP_001243779.1:p.Gly33804=
NM_001267550.2:c.106335A>G (TTN) MANE Select NP_001254479.2:p.Gly35445=
NM_003319.4:c.79140A>G (TTN) NP_003310.4:p.Gly26380=
NM_133378.4:c.98631A>G (TTN) NP_596869.4:p.Gly32877=
NM_133432.3:c.79515A>G (TTN) NP_597676.3:p.Gly26505=
NM_133437.4:c.79716A>G (TTN) NP_597681.4:p.Gly26572=
NR_038271.1:n.446+6644T>C (TTN-AS1)
NR_038272.1:n.220-5452T>C (TTN-AS1)
XM_011511729.1:c.105432A>G (TTN) XP_011510031.1:p.Gly35144=
XM_011511730.1:c.79326A>G (TTN) XP_011510032.1:p.Gly26442=
XM_011511731.1:c.79185A>G (TTN) XP_011510033.1:p.Gly26395=
XM_017004819.1:c.105228A>G (TTN) XP_016860308.1:p.Gly35076=
XM_017004820.1:c.100626A>G (TTN) XP_016860309.1:p.Gly33542=
XM_017004821.1:c.100623A>G (TTN) XP_016860310.1:p.Gly33541=
XM_017004822.1:c.97665A>G (TTN) XP_016860311.1:p.Gly32555=
XM_017004823.1:c.79281A>G (TTN) XP_016860312.1:p.Gly26427=
XM_024453094.1:c.100776A>G (TTN) XP_024308862.1:p.Gly33592=
XM_024453095.1:c.100773A>G (TTN) XP_024308863.1:p.Gly33591=
XM_024453096.1:c.100206A>G (TTN) XP_024308864.1:p.Gly33402=
XM_024453097.1:c.97548A>G (TTN) XP_024308865.1:p.Gly32516=
XM_024453098.1:c.97467A>G (TTN) XP_024308866.1:p.Gly32489=
XM_024453099.1:c.79230A>G (TTN) XP_024308867.1:p.Gly26410=
XM_024453100.1:c.69084A>G (TTN) XP_024308868.1:p.Gly23028=