Canonical Allele Identifier: CA430094131

Linked Data

MyVariant Identifiers: chr2:g.179394838A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530111A>G , CM000664.2:g.178530111A>G GRCh38
NC_000002.11:g.179394838A>G , CM000664.1:g.179394838A>G GRCh37
NC_000002.10:g.179103084A>G NCBI36
NG_011618.3:g.305692T>C , LRG_391:g.305692T>C
NG_051363.1:g.12285A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98676T>C (TTN) ENSP00000343764.6:p.Ile32892=
ENST00000342175.11:c.79761T>C (TTN) ENSP00000340554.6:p.Ile26587=
ENST00000359218.10:c.79560T>C (TTN) ENSP00000352154.5:p.Ile26520=
ENST00000342175.10:c.79761T>C (TTN) ENSP00000340554.6:p.Ile26587=
ENST00000342992.10:c.98676T>C (TTN) ENSP00000343764.6:p.Ile32892=
ENST00000359218.9:c.79560T>C (TTN) ENSP00000352154.5:p.Ile26520=
ENST00000460472.6:c.79185T>C (TTN) ENSP00000434586.1:p.Ile26395=
ENST00000589042.5:c.106380T>C (TTN) MANE Select ENSP00000467141.1:p.Ile35460=
ENST00000591111.5:c.101457T>C (TTN) ENSP00000465570.1:p.Ile33819=
ENST00000615779.4:c.101457T>C (TTN) ENSP00000483597.1:p.Ile33819=
NM_001256850.1:c.101457T>C (TTN) NP_001243779.1:p.Ile33819=
NM_001267550.2:c.106380T>C (TTN) MANE Select NP_001254479.2:p.Ile35460=
NM_003319.4:c.79185T>C (TTN) NP_003310.4:p.Ile26395=
NM_133378.4:c.98676T>C (TTN) NP_596869.4:p.Ile32892=
NM_133432.3:c.79560T>C (TTN) NP_597676.3:p.Ile26520=
NM_133437.4:c.79761T>C (TTN) NP_597681.4:p.Ile26587=
NR_038271.1:n.446+6475A>G (TTN-AS1)
NR_038272.1:n.220-5621A>G (TTN-AS1)
XM_011511729.1:c.105477T>C (TTN) XP_011510031.1:p.Ile35159=
XM_011511730.1:c.79371T>C (TTN) XP_011510032.1:p.Ile26457=
XM_011511731.1:c.79230T>C (TTN) XP_011510033.1:p.Ile26410=
XM_017004819.1:c.105273T>C (TTN) XP_016860308.1:p.Ile35091=
XM_017004820.1:c.100671T>C (TTN) XP_016860309.1:p.Ile33557=
XM_017004821.1:c.100668T>C (TTN) XP_016860310.1:p.Ile33556=
XM_017004822.1:c.97710T>C (TTN) XP_016860311.1:p.Ile32570=
XM_017004823.1:c.79326T>C (TTN) XP_016860312.1:p.Ile26442=
XM_024453094.1:c.100821T>C (TTN) XP_024308862.1:p.Ile33607=
XM_024453095.1:c.100818T>C (TTN) XP_024308863.1:p.Ile33606=
XM_024453096.1:c.100251T>C (TTN) XP_024308864.1:p.Ile33417=
XM_024453097.1:c.97593T>C (TTN) XP_024308865.1:p.Ile32531=
XM_024453098.1:c.97512T>C (TTN) XP_024308866.1:p.Ile32504=
XM_024453099.1:c.79275T>C (TTN) XP_024308867.1:p.Ile26425=
XM_024453100.1:c.69129T>C (TTN) XP_024308868.1:p.Ile23043=