Canonical Allele Identifier: CA430267281

Linked Data

MyVariant Identifiers: chr2:g.179457503A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592776A>T , CM000664.2:g.178592776A>T GRCh38
NC_000002.11:g.179457503A>T , CM000664.1:g.179457503A>T GRCh37
NC_000002.10:g.179165749A>T NCBI36
NG_011618.3:g.243027T>A , LRG_391:g.243027T>A
NG_051363.1:g.74950A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51639T>A (TTN) ENSP00000343764.6:p.Leu17213=
ENST00000342175.11:c.32724T>A (TTN) ENSP00000340554.6:p.Leu10908=
ENST00000359218.10:c.32523T>A (TTN) ENSP00000352154.5:p.Leu10841=
ENST00000342175.10:c.32724T>A (TTN) ENSP00000340554.6:p.Leu10908=
ENST00000342992.10:c.51639T>A (TTN) ENSP00000343764.6:p.Leu17213=
ENST00000359218.9:c.32523T>A (TTN) ENSP00000352154.5:p.Leu10841=
ENST00000460472.6:c.32148T>A (TTN) ENSP00000434586.1:p.Leu10716=
ENST00000589042.5:c.59343T>A (TTN) MANE Select ENSP00000467141.1:p.Leu19781=
ENST00000591111.5:c.54420T>A (TTN) ENSP00000465570.1:p.Leu18140=
ENST00000615779.4:c.54420T>A (TTN) ENSP00000483597.1:p.Leu18140=
NM_001256850.1:c.54420T>A (TTN) NP_001243779.1:p.Leu18140=
NM_001267550.2:c.59343T>A (TTN) MANE Select NP_001254479.2:p.Leu19781=
NM_003319.4:c.32148T>A (TTN) NP_003310.4:p.Leu10716=
NM_133378.4:c.51639T>A (TTN) NP_596869.4:p.Leu17213=
NM_133432.3:c.32523T>A (TTN) NP_597676.3:p.Leu10841=
NM_133437.4:c.32724T>A (TTN) NP_597681.4:p.Leu10908=
NR_038271.1:n.597-4820A>T (TTN-AS1)
NR_038272.1:n.3364+1462A>T (TTN-AS1)
XM_011511729.1:c.58440T>A (TTN) XP_011510031.1:p.Leu19480=
XM_011511730.1:c.32334T>A (TTN) XP_011510032.1:p.Leu10778=
XM_011511731.1:c.32193T>A (TTN) XP_011510033.1:p.Leu10731=
XM_017004819.1:c.58236T>A (TTN) XP_016860308.1:p.Leu19412=
XM_017004820.1:c.53634T>A (TTN) XP_016860309.1:p.Leu17878=
XM_017004821.1:c.53631T>A (TTN) XP_016860310.1:p.Leu17877=
XM_017004822.1:c.50673T>A (TTN) XP_016860311.1:p.Leu16891=
XM_017004823.1:c.32289T>A (TTN) XP_016860312.1:p.Leu10763=
XM_024453094.1:c.53784T>A (TTN) XP_024308862.1:p.Leu17928=
XM_024453095.1:c.53781T>A (TTN) XP_024308863.1:p.Leu17927=
XM_024453096.1:c.53214T>A (TTN) XP_024308864.1:p.Leu17738=
XM_024453097.1:c.50556T>A (TTN) XP_024308865.1:p.Leu16852=
XM_024453098.1:c.50475T>A (TTN) XP_024308866.1:p.Leu16825=
XM_024453099.1:c.32238T>A (TTN) XP_024308867.1:p.Leu10746=
XM_024453100.1:c.22092T>A (TTN) XP_024308868.1:p.Leu7364=