Canonical Allele Identifier: CA430241406

Linked Data

MyVariant Identifiers: chr2:g.179408571A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543844A>G , CM000664.2:g.178543844A>G GRCh38
NC_000002.11:g.179408571A>G , CM000664.1:g.179408571A>G GRCh37
NC_000002.10:g.179116817A>G NCBI36
NG_011618.3:g.291959T>C , LRG_391:g.291959T>C
NG_051363.1:g.26018A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88596T>C (TTN) ENSP00000343764.6:p.Val29532=
ENST00000342175.11:c.69681T>C (TTN) ENSP00000340554.6:p.Val23227=
ENST00000359218.10:c.69480T>C (TTN) ENSP00000352154.5:p.Val23160=
ENST00000342175.10:c.69681T>C (TTN) ENSP00000340554.6:p.Val23227=
ENST00000342992.10:c.88596T>C (TTN) ENSP00000343764.6:p.Val29532=
ENST00000359218.9:c.69480T>C (TTN) ENSP00000352154.5:p.Val23160=
ENST00000460472.6:c.69105T>C (TTN) ENSP00000434586.1:p.Val23035=
ENST00000589042.5:c.96300T>C (TTN) MANE Select ENSP00000467141.1:p.Val32100=
ENST00000591111.5:c.91377T>C (TTN) ENSP00000465570.1:p.Val30459=
ENST00000615779.4:c.91377T>C (TTN) ENSP00000483597.1:p.Val30459=
NM_001256850.1:c.91377T>C (TTN) NP_001243779.1:p.Val30459=
NM_001267550.2:c.96300T>C (TTN) MANE Select NP_001254479.2:p.Val32100=
NM_003319.4:c.69105T>C (TTN) NP_003310.4:p.Val23035=
NM_133378.4:c.88596T>C (TTN) NP_596869.4:p.Val29532=
NM_133432.3:c.69480T>C (TTN) NP_597676.3:p.Val23160=
NM_133437.4:c.69681T>C (TTN) NP_597681.4:p.Val23227=
NR_038271.1:n.446+20208A>G (TTN-AS1)
NR_038272.1:n.2043+1483A>G (TTN-AS1)
XM_011511729.1:c.95397T>C (TTN) XP_011510031.1:p.Val31799=
XM_011511730.1:c.69291T>C (TTN) XP_011510032.1:p.Val23097=
XM_011511731.1:c.69150T>C (TTN) XP_011510033.1:p.Val23050=
XM_017004819.1:c.95193T>C (TTN) XP_016860308.1:p.Val31731=
XM_017004820.1:c.90591T>C (TTN) XP_016860309.1:p.Val30197=
XM_017004821.1:c.90588T>C (TTN) XP_016860310.1:p.Val30196=
XM_017004822.1:c.87630T>C (TTN) XP_016860311.1:p.Val29210=
XM_017004823.1:c.69246T>C (TTN) XP_016860312.1:p.Val23082=
XM_024453094.1:c.90741T>C (TTN) XP_024308862.1:p.Val30247=
XM_024453095.1:c.90738T>C (TTN) XP_024308863.1:p.Val30246=
XM_024453096.1:c.90171T>C (TTN) XP_024308864.1:p.Val30057=
XM_024453097.1:c.87513T>C (TTN) XP_024308865.1:p.Val29171=
XM_024453098.1:c.87432T>C (TTN) XP_024308866.1:p.Val29144=
XM_024453099.1:c.69195T>C (TTN) XP_024308867.1:p.Val23065=
XM_024453100.1:c.59049T>C (TTN) XP_024308868.1:p.Val19683=