Canonical Allele Identifier: CA430242460

Linked Data

MyVariant Identifiers: chr2:g.179411493A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546766A>T , CM000664.2:g.178546766A>T GRCh38
NC_000002.11:g.179411493A>T , CM000664.1:g.179411493A>T GRCh37
NC_000002.10:g.179119739A>T NCBI36
NG_011618.3:g.289037T>A , LRG_391:g.289037T>A
NG_051363.1:g.28940A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86958T>A (TTN) ENSP00000343764.6:p.Gly28986=
ENST00000342175.11:c.68043T>A (TTN) ENSP00000340554.6:p.Gly22681=
ENST00000359218.10:c.67842T>A (TTN) ENSP00000352154.5:p.Gly22614=
ENST00000342175.10:c.68043T>A (TTN) ENSP00000340554.6:p.Gly22681=
ENST00000342992.10:c.86958T>A (TTN) ENSP00000343764.6:p.Gly28986=
ENST00000359218.9:c.67842T>A (TTN) ENSP00000352154.5:p.Gly22614=
ENST00000460472.6:c.67467T>A (TTN) ENSP00000434586.1:p.Gly22489=
ENST00000589042.5:c.94662T>A (TTN) MANE Select ENSP00000467141.1:p.Gly31554=
ENST00000591111.5:c.89739T>A (TTN) ENSP00000465570.1:p.Gly29913=
ENST00000615779.4:c.89739T>A (TTN) ENSP00000483597.1:p.Gly29913=
NM_001256850.1:c.89739T>A (TTN) NP_001243779.1:p.Gly29913=
NM_001267550.2:c.94662T>A (TTN) MANE Select NP_001254479.2:p.Gly31554=
NM_003319.4:c.67467T>A (TTN) NP_003310.4:p.Gly22489=
NM_133378.4:c.86958T>A (TTN) NP_596869.4:p.Gly28986=
NM_133432.3:c.67842T>A (TTN) NP_597676.3:p.Gly22614=
NM_133437.4:c.68043T>A (TTN) NP_597681.4:p.Gly22681=
NR_038271.1:n.446+23130A>T (TTN-AS1)
NR_038272.1:n.2043+4405A>T (TTN-AS1)
XM_011511729.1:c.93759T>A (TTN) XP_011510031.1:p.Gly31253=
XM_011511730.1:c.67653T>A (TTN) XP_011510032.1:p.Gly22551=
XM_011511731.1:c.67512T>A (TTN) XP_011510033.1:p.Gly22504=
XM_017004819.1:c.93555T>A (TTN) XP_016860308.1:p.Gly31185=
XM_017004820.1:c.88953T>A (TTN) XP_016860309.1:p.Gly29651=
XM_017004821.1:c.88950T>A (TTN) XP_016860310.1:p.Gly29650=
XM_017004822.1:c.85992T>A (TTN) XP_016860311.1:p.Gly28664=
XM_017004823.1:c.67608T>A (TTN) XP_016860312.1:p.Gly22536=
XM_024453094.1:c.89103T>A (TTN) XP_024308862.1:p.Gly29701=
XM_024453095.1:c.89100T>A (TTN) XP_024308863.1:p.Gly29700=
XM_024453096.1:c.88533T>A (TTN) XP_024308864.1:p.Gly29511=
XM_024453097.1:c.85875T>A (TTN) XP_024308865.1:p.Gly28625=
XM_024453098.1:c.85794T>A (TTN) XP_024308866.1:p.Gly28598=
XM_024453099.1:c.67557T>A (TTN) XP_024308867.1:p.Gly22519=
XM_024453100.1:c.57411T>A (TTN) XP_024308868.1:p.Gly19137=