Canonical Allele Identifier: CA430271545

Linked Data

MyVariant Identifiers: chr2:g.179474412A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609685A>G , CM000664.2:g.178609685A>G GRCh38
NC_000002.11:g.179474412A>G , CM000664.1:g.179474412A>G GRCh37
NC_000002.10:g.179182657A>G NCBI36
NG_011618.3:g.226118T>C , LRG_391:g.226118T>C
NG_051363.1:g.91859A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.44034T>C (TTN) ENSP00000343764.6:p.Ile14678=
ENST00000342175.11:c.25119T>C (TTN) ENSP00000340554.6:p.Ile8373=
ENST00000359218.10:c.24918T>C (TTN) ENSP00000352154.5:p.Ile8306=
ENST00000342175.10:c.25119T>C (TTN) ENSP00000340554.6:p.Ile8373=
ENST00000342992.10:c.44034T>C (TTN) ENSP00000343764.6:p.Ile14678=
ENST00000359218.9:c.24918T>C (TTN) ENSP00000352154.5:p.Ile8306=
ENST00000460472.6:c.24543T>C (TTN) ENSP00000434586.1:p.Ile8181=
ENST00000589042.5:c.51738T>C (TTN) MANE Select ENSP00000467141.1:p.Ile17246=
ENST00000591111.5:c.46815T>C (TTN) ENSP00000465570.1:p.Ile15605=
ENST00000615779.4:c.46815T>C (TTN) ENSP00000483597.1:p.Ile15605=
NM_001256850.1:c.46815T>C (TTN) NP_001243779.1:p.Ile15605=
NM_001267550.2:c.51738T>C (TTN) MANE Select NP_001254479.2:p.Ile17246=
NM_003319.4:c.24543T>C (TTN) NP_003310.4:p.Ile8181=
NM_133378.4:c.44034T>C (TTN) NP_596869.4:p.Ile14678=
NM_133432.3:c.24918T>C (TTN) NP_597676.3:p.Ile8306=
NM_133437.4:c.25119T>C (TTN) NP_597681.4:p.Ile8373=
NR_038271.1:n.782+1419A>G (TTN-AS1)
XM_011511729.1:c.50835T>C (TTN) XP_011510031.1:p.Ile16945=
XM_011511730.1:c.24729T>C (TTN) XP_011510032.1:p.Ile8243=
XM_011511731.1:c.24588T>C (TTN) XP_011510033.1:p.Ile8196=
XM_017004819.1:c.50631T>C (TTN) XP_016860308.1:p.Ile16877=
XM_017004820.1:c.46029T>C (TTN) XP_016860309.1:p.Ile15343=
XM_017004821.1:c.46026T>C (TTN) XP_016860310.1:p.Ile15342=
XM_017004822.1:c.43068T>C (TTN) XP_016860311.1:p.Ile14356=
XM_017004823.1:c.24684T>C (TTN) XP_016860312.1:p.Ile8228=
XM_024453094.1:c.46179T>C (TTN) XP_024308862.1:p.Ile15393=
XM_024453095.1:c.46176T>C (TTN) XP_024308863.1:p.Ile15392=
XM_024453096.1:c.45609T>C (TTN) XP_024308864.1:p.Ile15203=
XM_024453097.1:c.42951T>C (TTN) XP_024308865.1:p.Ile14317=
XM_024453098.1:c.42870T>C (TTN) XP_024308866.1:p.Ile14290=
XM_024453099.1:c.24633T>C (TTN) XP_024308867.1:p.Ile8211=
XM_024453100.1:c.14487T>C (TTN) XP_024308868.1:p.Ile4829=