Canonical Allele Identifier: CA430244794

Linked Data

MyVariant Identifiers: chr2:g.179414505A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549778A>C , CM000664.2:g.178549778A>C GRCh38
NC_000002.11:g.179414505A>C , CM000664.1:g.179414505A>C GRCh37
NC_000002.10:g.179122751A>C NCBI36
NG_011618.3:g.286025T>G , LRG_391:g.286025T>G
NG_051363.1:g.31952A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84240T>G (TTN) ENSP00000343764.6:p.Gly28080=
ENST00000342175.11:c.65325T>G (TTN) ENSP00000340554.6:p.Gly21775=
ENST00000359218.10:c.65124T>G (TTN) ENSP00000352154.5:p.Gly21708=
ENST00000342175.10:c.65325T>G (TTN) ENSP00000340554.6:p.Gly21775=
ENST00000342992.10:c.84240T>G (TTN) ENSP00000343764.6:p.Gly28080=
ENST00000359218.9:c.65124T>G (TTN) ENSP00000352154.5:p.Gly21708=
ENST00000460472.6:c.64749T>G (TTN) ENSP00000434586.1:p.Gly21583=
ENST00000589042.5:c.91944T>G (TTN) MANE Select ENSP00000467141.1:p.Gly30648=
ENST00000591111.5:c.87021T>G (TTN) ENSP00000465570.1:p.Gly29007=
ENST00000615779.4:c.87021T>G (TTN) ENSP00000483597.1:p.Gly29007=
NM_001256850.1:c.87021T>G (TTN) NP_001243779.1:p.Gly29007=
NM_001267550.2:c.91944T>G (TTN) MANE Select NP_001254479.2:p.Gly30648=
NM_003319.4:c.64749T>G (TTN) NP_003310.4:p.Gly21583=
NM_133378.4:c.84240T>G (TTN) NP_596869.4:p.Gly28080=
NM_133432.3:c.65124T>G (TTN) NP_597676.3:p.Gly21708=
NM_133437.4:c.65325T>G (TTN) NP_597681.4:p.Gly21775=
NR_038271.1:n.447-21522A>C (TTN-AS1)
NR_038272.1:n.2043+7417A>C (TTN-AS1)
XM_011511729.1:c.91041T>G (TTN) XP_011510031.1:p.Gly30347=
XM_011511730.1:c.64935T>G (TTN) XP_011510032.1:p.Gly21645=
XM_011511731.1:c.64794T>G (TTN) XP_011510033.1:p.Gly21598=
XM_017004819.1:c.90837T>G (TTN) XP_016860308.1:p.Gly30279=
XM_017004820.1:c.86235T>G (TTN) XP_016860309.1:p.Gly28745=
XM_017004821.1:c.86232T>G (TTN) XP_016860310.1:p.Gly28744=
XM_017004822.1:c.83274T>G (TTN) XP_016860311.1:p.Gly27758=
XM_017004823.1:c.64890T>G (TTN) XP_016860312.1:p.Gly21630=
XM_024453094.1:c.86385T>G (TTN) XP_024308862.1:p.Gly28795=
XM_024453095.1:c.86382T>G (TTN) XP_024308863.1:p.Gly28794=
XM_024453096.1:c.85815T>G (TTN) XP_024308864.1:p.Gly28605=
XM_024453097.1:c.83157T>G (TTN) XP_024308865.1:p.Gly27719=
XM_024453098.1:c.83076T>G (TTN) XP_024308866.1:p.Gly27692=
XM_024453099.1:c.64839T>G (TTN) XP_024308867.1:p.Gly21613=
XM_024453100.1:c.54693T>G (TTN) XP_024308868.1:p.Gly18231=