Canonical Allele Identifier: CA430234436

Linked Data

MyVariant Identifiers: chr2:g.179392321A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527594A>C , CM000664.2:g.178527594A>C GRCh38
NC_000002.11:g.179392321A>C , CM000664.1:g.179392321A>C GRCh37
NC_000002.10:g.179100567A>C NCBI36
NG_011618.3:g.308209T>G , LRG_391:g.308209T>G
NG_051363.1:g.9768A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99828T>G (TTN) ENSP00000343764.6:p.Thr33276=
ENST00000342175.11:c.80913T>G (TTN) ENSP00000340554.6:p.Thr26971=
ENST00000359218.10:c.80712T>G (TTN) ENSP00000352154.5:p.Thr26904=
ENST00000342175.10:c.80913T>G (TTN) ENSP00000340554.6:p.Thr26971=
ENST00000342992.10:c.99828T>G (TTN) ENSP00000343764.6:p.Thr33276=
ENST00000359218.9:c.80712T>G (TTN) ENSP00000352154.5:p.Thr26904=
ENST00000460472.6:c.80337T>G (TTN) ENSP00000434586.1:p.Thr26779=
ENST00000589042.5:c.107532T>G (TTN) MANE Select ENSP00000467141.1:p.Thr35844=
ENST00000591111.5:c.102609T>G (TTN) ENSP00000465570.1:p.Thr34203=
ENST00000615779.4:c.102609T>G (TTN) ENSP00000483597.1:p.Thr34203=
NM_001256850.1:c.102609T>G (TTN) NP_001243779.1:p.Thr34203=
NM_001267550.2:c.107532T>G (TTN) MANE Select NP_001254479.2:p.Thr35844=
NM_003319.4:c.80337T>G (TTN) NP_003310.4:p.Thr26779=
NM_133378.4:c.99828T>G (TTN) NP_596869.4:p.Thr33276=
NM_133432.3:c.80712T>G (TTN) NP_597676.3:p.Thr26904=
NM_133437.4:c.80913T>G (TTN) NP_597681.4:p.Thr26971=
NR_038271.1:n.446+3958A>C (TTN-AS1)
NR_038272.1:n.219+3958A>C (TTN-AS1)
XM_011511729.1:c.106629T>G (TTN) XP_011510031.1:p.Thr35543=
XM_011511730.1:c.80523T>G (TTN) XP_011510032.1:p.Thr26841=
XM_011511731.1:c.80382T>G (TTN) XP_011510033.1:p.Thr26794=
XM_017004819.1:c.106425T>G (TTN) XP_016860308.1:p.Thr35475=
XM_017004820.1:c.101823T>G (TTN) XP_016860309.1:p.Thr33941=
XM_017004821.1:c.101820T>G (TTN) XP_016860310.1:p.Thr33940=
XM_017004822.1:c.98862T>G (TTN) XP_016860311.1:p.Thr32954=
XM_017004823.1:c.80478T>G (TTN) XP_016860312.1:p.Thr26826=
XM_024453094.1:c.101973T>G (TTN) XP_024308862.1:p.Thr33991=
XM_024453095.1:c.101970T>G (TTN) XP_024308863.1:p.Thr33990=
XM_024453096.1:c.101403T>G (TTN) XP_024308864.1:p.Thr33801=
XM_024453097.1:c.98745T>G (TTN) XP_024308865.1:p.Thr32915=
XM_024453098.1:c.98664T>G (TTN) XP_024308866.1:p.Thr32888=
XM_024453099.1:c.80427T>G (TTN) XP_024308867.1:p.Thr26809=
XM_024453100.1:c.70281T>G (TTN) XP_024308868.1:p.Thr23427=