Canonical Allele Identifier: CA430235147

Linked Data

MyVariant Identifiers: chr2:g.179395253A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530526A>G , CM000664.2:g.178530526A>G GRCh38
NC_000002.11:g.179395253A>G , CM000664.1:g.179395253A>G GRCh37
NC_000002.10:g.179103499A>G NCBI36
NG_011618.3:g.305277T>C , LRG_391:g.305277T>C
NG_051363.1:g.12700A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98385T>C (TTN) ENSP00000343764.6:p.Gly32795=
ENST00000342175.11:c.79470T>C (TTN) ENSP00000340554.6:p.Gly26490=
ENST00000359218.10:c.79269T>C (TTN) ENSP00000352154.5:p.Gly26423=
ENST00000342175.10:c.79470T>C (TTN) ENSP00000340554.6:p.Gly26490=
ENST00000342992.10:c.98385T>C (TTN) ENSP00000343764.6:p.Gly32795=
ENST00000359218.9:c.79269T>C (TTN) ENSP00000352154.5:p.Gly26423=
ENST00000460472.6:c.78894T>C (TTN) ENSP00000434586.1:p.Gly26298=
ENST00000589042.5:c.106089T>C (TTN) MANE Select ENSP00000467141.1:p.Gly35363=
ENST00000591111.5:c.101166T>C (TTN) ENSP00000465570.1:p.Gly33722=
ENST00000615779.4:c.101166T>C (TTN) ENSP00000483597.1:p.Gly33722=
NM_001256850.1:c.101166T>C (TTN) NP_001243779.1:p.Gly33722=
NM_001267550.2:c.106089T>C (TTN) MANE Select NP_001254479.2:p.Gly35363=
NM_003319.4:c.78894T>C (TTN) NP_003310.4:p.Gly26298=
NM_133378.4:c.98385T>C (TTN) NP_596869.4:p.Gly32795=
NM_133432.3:c.79269T>C (TTN) NP_597676.3:p.Gly26423=
NM_133437.4:c.79470T>C (TTN) NP_597681.4:p.Gly26490=
NR_038271.1:n.446+6890A>G (TTN-AS1)
NR_038272.1:n.220-5206A>G (TTN-AS1)
XM_011511729.1:c.105186T>C (TTN) XP_011510031.1:p.Gly35062=
XM_011511730.1:c.79080T>C (TTN) XP_011510032.1:p.Gly26360=
XM_011511731.1:c.78939T>C (TTN) XP_011510033.1:p.Gly26313=
XM_017004819.1:c.104982T>C (TTN) XP_016860308.1:p.Gly34994=
XM_017004820.1:c.100380T>C (TTN) XP_016860309.1:p.Gly33460=
XM_017004821.1:c.100377T>C (TTN) XP_016860310.1:p.Gly33459=
XM_017004822.1:c.97419T>C (TTN) XP_016860311.1:p.Gly32473=
XM_017004823.1:c.79035T>C (TTN) XP_016860312.1:p.Gly26345=
XM_024453094.1:c.100530T>C (TTN) XP_024308862.1:p.Gly33510=
XM_024453095.1:c.100527T>C (TTN) XP_024308863.1:p.Gly33509=
XM_024453096.1:c.99960T>C (TTN) XP_024308864.1:p.Gly33320=
XM_024453097.1:c.97302T>C (TTN) XP_024308865.1:p.Gly32434=
XM_024453098.1:c.97221T>C (TTN) XP_024308866.1:p.Gly32407=
XM_024453099.1:c.78984T>C (TTN) XP_024308867.1:p.Gly26328=
XM_024453100.1:c.68838T>C (TTN) XP_024308868.1:p.Gly22946=