Canonical Allele Identifier: CA430259647

Linked Data

MyVariant Identifiers: chr2:g.179442716A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577989A>T , CM000664.2:g.178577989A>T GRCh38
NC_000002.11:g.179442716A>T , CM000664.1:g.179442716A>T GRCh37
NC_000002.10:g.179150962A>T NCBI36
NG_011618.3:g.257814T>A , LRG_391:g.257814T>A
NG_051363.1:g.60163A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60822T>A (TTN) ENSP00000343764.6:p.Ile20274=
ENST00000342175.11:c.41907T>A (TTN) ENSP00000340554.6:p.Ile13969=
ENST00000359218.10:c.41706T>A (TTN) ENSP00000352154.5:p.Ile13902=
ENST00000342175.10:c.41907T>A (TTN) ENSP00000340554.6:p.Ile13969=
ENST00000342992.10:c.60822T>A (TTN) ENSP00000343764.6:p.Ile20274=
ENST00000359218.9:c.41706T>A (TTN) ENSP00000352154.5:p.Ile13902=
ENST00000460472.6:c.41331T>A (TTN) ENSP00000434586.1:p.Ile13777=
ENST00000589042.5:c.68526T>A (TTN) MANE Select ENSP00000467141.1:p.Ile22842=
ENST00000591111.5:c.63603T>A (TTN) ENSP00000465570.1:p.Ile21201=
ENST00000615779.4:c.63603T>A (TTN) ENSP00000483597.1:p.Ile21201=
NM_001256850.1:c.63603T>A (TTN) NP_001243779.1:p.Ile21201=
NM_001267550.2:c.68526T>A (TTN) MANE Select NP_001254479.2:p.Ile22842=
NM_003319.4:c.41331T>A (TTN) NP_003310.4:p.Ile13777=
NM_133378.4:c.60822T>A (TTN) NP_596869.4:p.Ile20274=
NM_133432.3:c.41706T>A (TTN) NP_597676.3:p.Ile13902=
NM_133437.4:c.41907T>A (TTN) NP_597681.4:p.Ile13969=
NR_038271.1:n.596+6540A>T (TTN-AS1)
NR_038272.1:n.2044-4583A>T (TTN-AS1)
XM_011511729.1:c.67623T>A (TTN) XP_011510031.1:p.Ile22541=
XM_011511730.1:c.41517T>A (TTN) XP_011510032.1:p.Ile13839=
XM_011511731.1:c.41376T>A (TTN) XP_011510033.1:p.Ile13792=
XM_017004819.1:c.67419T>A (TTN) XP_016860308.1:p.Ile22473=
XM_017004820.1:c.62817T>A (TTN) XP_016860309.1:p.Ile20939=
XM_017004821.1:c.62814T>A (TTN) XP_016860310.1:p.Ile20938=
XM_017004822.1:c.59856T>A (TTN) XP_016860311.1:p.Ile19952=
XM_017004823.1:c.41472T>A (TTN) XP_016860312.1:p.Ile13824=
XM_024453094.1:c.62967T>A (TTN) XP_024308862.1:p.Ile20989=
XM_024453095.1:c.62964T>A (TTN) XP_024308863.1:p.Ile20988=
XM_024453096.1:c.62397T>A (TTN) XP_024308864.1:p.Ile20799=
XM_024453097.1:c.59739T>A (TTN) XP_024308865.1:p.Ile19913=
XM_024453098.1:c.59658T>A (TTN) XP_024308866.1:p.Ile19886=
XM_024453099.1:c.41421T>A (TTN) XP_024308867.1:p.Ile13807=
XM_024453100.1:c.31275T>A (TTN) XP_024308868.1:p.Ile10425=