Canonical Allele Identifier: CA430241374

Linked Data

dbSNP Id: rs1695784827
MyVariant Identifiers: chr2:g.179408562A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543835A>G , CM000664.2:g.178543835A>G GRCh38
NC_000002.11:g.179408562A>G , CM000664.1:g.179408562A>G GRCh37
NC_000002.10:g.179116808A>G NCBI36
NG_011618.3:g.291968T>C , LRG_391:g.291968T>C
NG_051363.1:g.26009A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88605T>C (TTN) ENSP00000343764.6:p.Tyr29535=
ENST00000342175.11:c.69690T>C (TTN) ENSP00000340554.6:p.Tyr23230=
ENST00000359218.10:c.69489T>C (TTN) ENSP00000352154.5:p.Tyr23163=
ENST00000342175.10:c.69690T>C (TTN) ENSP00000340554.6:p.Tyr23230=
ENST00000342992.10:c.88605T>C (TTN) ENSP00000343764.6:p.Tyr29535=
ENST00000359218.9:c.69489T>C (TTN) ENSP00000352154.5:p.Tyr23163=
ENST00000460472.6:c.69114T>C (TTN) ENSP00000434586.1:p.Tyr23038=
ENST00000589042.5:c.96309T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr32103=
ENST00000591111.5:c.91386T>C (TTN) ENSP00000465570.1:p.Tyr30462=
ENST00000615779.4:c.91386T>C (TTN) ENSP00000483597.1:p.Tyr30462=
NM_001256850.1:c.91386T>C (TTN) NP_001243779.1:p.Tyr30462=
NM_001267550.2:c.96309T>C (TTN) MANE Select NP_001254479.2:p.Tyr32103=
NM_003319.4:c.69114T>C (TTN) NP_003310.4:p.Tyr23038=
NM_133378.4:c.88605T>C (TTN) NP_596869.4:p.Tyr29535=
NM_133432.3:c.69489T>C (TTN) NP_597676.3:p.Tyr23163=
NM_133437.4:c.69690T>C (TTN) NP_597681.4:p.Tyr23230=
NR_038271.1:n.446+20199A>G (TTN-AS1)
NR_038272.1:n.2043+1474A>G (TTN-AS1)
XM_011511729.1:c.95406T>C (TTN) XP_011510031.1:p.Tyr31802=
XM_011511730.1:c.69300T>C (TTN) XP_011510032.1:p.Tyr23100=
XM_011511731.1:c.69159T>C (TTN) XP_011510033.1:p.Tyr23053=
XM_017004819.1:c.95202T>C (TTN) XP_016860308.1:p.Tyr31734=
XM_017004820.1:c.90600T>C (TTN) XP_016860309.1:p.Tyr30200=
XM_017004821.1:c.90597T>C (TTN) XP_016860310.1:p.Tyr30199=
XM_017004822.1:c.87639T>C (TTN) XP_016860311.1:p.Tyr29213=
XM_017004823.1:c.69255T>C (TTN) XP_016860312.1:p.Tyr23085=
XM_024453094.1:c.90750T>C (TTN) XP_024308862.1:p.Tyr30250=
XM_024453095.1:c.90747T>C (TTN) XP_024308863.1:p.Tyr30249=
XM_024453096.1:c.90180T>C (TTN) XP_024308864.1:p.Tyr30060=
XM_024453097.1:c.87522T>C (TTN) XP_024308865.1:p.Tyr29174=
XM_024453098.1:c.87441T>C (TTN) XP_024308866.1:p.Tyr29147=
XM_024453099.1:c.69204T>C (TTN) XP_024308867.1:p.Tyr23068=
XM_024453100.1:c.59058T>C (TTN) XP_024308868.1:p.Tyr19686=