Canonical Allele Identifier: CA430235083

Linked Data

MyVariant Identifiers: chr2:g.179395019A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530292A>T , CM000664.2:g.178530292A>T GRCh38
NC_000002.11:g.179395019A>T , CM000664.1:g.179395019A>T GRCh37
NC_000002.10:g.179103265A>T NCBI36
NG_011618.3:g.305511T>A , LRG_391:g.305511T>A
NG_051363.1:g.12466A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98619T>A (TTN) ENSP00000343764.6:p.Val32873=
ENST00000342175.11:c.79704T>A (TTN) ENSP00000340554.6:p.Val26568=
ENST00000359218.10:c.79503T>A (TTN) ENSP00000352154.5:p.Val26501=
ENST00000342175.10:c.79704T>A (TTN) ENSP00000340554.6:p.Val26568=
ENST00000342992.10:c.98619T>A (TTN) ENSP00000343764.6:p.Val32873=
ENST00000359218.9:c.79503T>A (TTN) ENSP00000352154.5:p.Val26501=
ENST00000460472.6:c.79128T>A (TTN) ENSP00000434586.1:p.Val26376=
ENST00000589042.5:c.106323T>A (TTN) MANE Select ENSP00000467141.1:p.Val35441=
ENST00000591111.5:c.101400T>A (TTN) ENSP00000465570.1:p.Val33800=
ENST00000615779.4:c.101400T>A (TTN) ENSP00000483597.1:p.Val33800=
NM_001256850.1:c.101400T>A (TTN) NP_001243779.1:p.Val33800=
NM_001267550.2:c.106323T>A (TTN) MANE Select NP_001254479.2:p.Val35441=
NM_003319.4:c.79128T>A (TTN) NP_003310.4:p.Val26376=
NM_133378.4:c.98619T>A (TTN) NP_596869.4:p.Val32873=
NM_133432.3:c.79503T>A (TTN) NP_597676.3:p.Val26501=
NM_133437.4:c.79704T>A (TTN) NP_597681.4:p.Val26568=
NR_038271.1:n.446+6656A>T (TTN-AS1)
NR_038272.1:n.220-5440A>T (TTN-AS1)
XM_011511729.1:c.105420T>A (TTN) XP_011510031.1:p.Val35140=
XM_011511730.1:c.79314T>A (TTN) XP_011510032.1:p.Val26438=
XM_011511731.1:c.79173T>A (TTN) XP_011510033.1:p.Val26391=
XM_017004819.1:c.105216T>A (TTN) XP_016860308.1:p.Val35072=
XM_017004820.1:c.100614T>A (TTN) XP_016860309.1:p.Val33538=
XM_017004821.1:c.100611T>A (TTN) XP_016860310.1:p.Val33537=
XM_017004822.1:c.97653T>A (TTN) XP_016860311.1:p.Val32551=
XM_017004823.1:c.79269T>A (TTN) XP_016860312.1:p.Val26423=
XM_024453094.1:c.100764T>A (TTN) XP_024308862.1:p.Val33588=
XM_024453095.1:c.100761T>A (TTN) XP_024308863.1:p.Val33587=
XM_024453096.1:c.100194T>A (TTN) XP_024308864.1:p.Val33398=
XM_024453097.1:c.97536T>A (TTN) XP_024308865.1:p.Val32512=
XM_024453098.1:c.97455T>A (TTN) XP_024308866.1:p.Val32485=
XM_024453099.1:c.79218T>A (TTN) XP_024308867.1:p.Val26406=
XM_024453100.1:c.69072T>A (TTN) XP_024308868.1:p.Val23024=