Canonical Allele Identifier: CA430267828

Linked Data

MyVariant Identifiers: chr2:g.179457776T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593049T>A , CM000664.2:g.178593049T>A GRCh38
NC_000002.11:g.179457776T>A , CM000664.1:g.179457776T>A GRCh37
NC_000002.10:g.179166022T>A NCBI36
NG_011618.3:g.242754A>T , LRG_391:g.242754A>T
NG_051363.1:g.75223T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51366A>T (TTN) ENSP00000343764.6:p.Ile17122=
ENST00000342175.11:c.32451A>T (TTN) ENSP00000340554.6:p.Ile10817=
ENST00000359218.10:c.32250A>T (TTN) ENSP00000352154.5:p.Ile10750=
ENST00000342175.10:c.32451A>T (TTN) ENSP00000340554.6:p.Ile10817=
ENST00000342992.10:c.51366A>T (TTN) ENSP00000343764.6:p.Ile17122=
ENST00000359218.9:c.32250A>T (TTN) ENSP00000352154.5:p.Ile10750=
ENST00000460472.6:c.31875A>T (TTN) ENSP00000434586.1:p.Ile10625=
ENST00000589042.5:c.59070A>T (TTN) MANE Select ENSP00000467141.1:p.Ile19690=
ENST00000591111.5:c.54147A>T (TTN) ENSP00000465570.1:p.Ile18049=
ENST00000615779.4:c.54147A>T (TTN) ENSP00000483597.1:p.Ile18049=
NM_001256850.1:c.54147A>T (TTN) NP_001243779.1:p.Ile18049=
NM_001267550.2:c.59070A>T (TTN) MANE Select NP_001254479.2:p.Ile19690=
NM_003319.4:c.31875A>T (TTN) NP_003310.4:p.Ile10625=
NM_133378.4:c.51366A>T (TTN) NP_596869.4:p.Ile17122=
NM_133432.3:c.32250A>T (TTN) NP_597676.3:p.Ile10750=
NM_133437.4:c.32451A>T (TTN) NP_597681.4:p.Ile10817=
NR_038271.1:n.597-4547T>A (TTN-AS1)
NR_038272.1:n.3364+1735T>A (TTN-AS1)
XM_011511729.1:c.58167A>T (TTN) XP_011510031.1:p.Ile19389=
XM_011511730.1:c.32061A>T (TTN) XP_011510032.1:p.Ile10687=
XM_011511731.1:c.31920A>T (TTN) XP_011510033.1:p.Ile10640=
XM_017004819.1:c.57963A>T (TTN) XP_016860308.1:p.Ile19321=
XM_017004820.1:c.53361A>T (TTN) XP_016860309.1:p.Ile17787=
XM_017004821.1:c.53358A>T (TTN) XP_016860310.1:p.Ile17786=
XM_017004822.1:c.50400A>T (TTN) XP_016860311.1:p.Ile16800=
XM_017004823.1:c.32016A>T (TTN) XP_016860312.1:p.Ile10672=
XM_024453094.1:c.53511A>T (TTN) XP_024308862.1:p.Ile17837=
XM_024453095.1:c.53508A>T (TTN) XP_024308863.1:p.Ile17836=
XM_024453096.1:c.52941A>T (TTN) XP_024308864.1:p.Ile17647=
XM_024453097.1:c.50283A>T (TTN) XP_024308865.1:p.Ile16761=
XM_024453098.1:c.50202A>T (TTN) XP_024308866.1:p.Ile16734=
XM_024453099.1:c.31965A>T (TTN) XP_024308867.1:p.Ile10655=
XM_024453100.1:c.21819A>T (TTN) XP_024308868.1:p.Ile7273=