Canonical Allele Identifier: CA430241307

Linked Data

MyVariant Identifiers: chr2:g.179408010A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543283A>G , CM000664.2:g.178543283A>G GRCh38
NC_000002.11:g.179408010A>G , CM000664.1:g.179408010A>G GRCh37
NC_000002.10:g.179116256A>G NCBI36
NG_011618.3:g.292520T>C , LRG_391:g.292520T>C
NG_051363.1:g.25457A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88986T>C (TTN) ENSP00000343764.6:p.Gly29662=
ENST00000342175.11:c.70071T>C (TTN) ENSP00000340554.6:p.Gly23357=
ENST00000359218.10:c.69870T>C (TTN) ENSP00000352154.5:p.Gly23290=
ENST00000342175.10:c.70071T>C (TTN) ENSP00000340554.6:p.Gly23357=
ENST00000342992.10:c.88986T>C (TTN) ENSP00000343764.6:p.Gly29662=
ENST00000359218.9:c.69870T>C (TTN) ENSP00000352154.5:p.Gly23290=
ENST00000460472.6:c.69495T>C (TTN) ENSP00000434586.1:p.Gly23165=
ENST00000589042.5:c.96690T>C (TTN) MANE Select ENSP00000467141.1:p.Gly32230=
ENST00000591111.5:c.91767T>C (TTN) ENSP00000465570.1:p.Gly30589=
ENST00000615779.4:c.91767T>C (TTN) ENSP00000483597.1:p.Gly30589=
NM_001256850.1:c.91767T>C (TTN) NP_001243779.1:p.Gly30589=
NM_001267550.2:c.96690T>C (TTN) MANE Select NP_001254479.2:p.Gly32230=
NM_003319.4:c.69495T>C (TTN) NP_003310.4:p.Gly23165=
NM_133378.4:c.88986T>C (TTN) NP_596869.4:p.Gly29662=
NM_133432.3:c.69870T>C (TTN) NP_597676.3:p.Gly23290=
NM_133437.4:c.70071T>C (TTN) NP_597681.4:p.Gly23357=
NR_038271.1:n.446+19647A>G (TTN-AS1)
NR_038272.1:n.2043+922A>G (TTN-AS1)
XM_011511729.1:c.95787T>C (TTN) XP_011510031.1:p.Gly31929=
XM_011511730.1:c.69681T>C (TTN) XP_011510032.1:p.Gly23227=
XM_011511731.1:c.69540T>C (TTN) XP_011510033.1:p.Gly23180=
XM_017004819.1:c.95583T>C (TTN) XP_016860308.1:p.Gly31861=
XM_017004820.1:c.90981T>C (TTN) XP_016860309.1:p.Gly30327=
XM_017004821.1:c.90978T>C (TTN) XP_016860310.1:p.Gly30326=
XM_017004822.1:c.88020T>C (TTN) XP_016860311.1:p.Gly29340=
XM_017004823.1:c.69636T>C (TTN) XP_016860312.1:p.Gly23212=
XM_024453094.1:c.91131T>C (TTN) XP_024308862.1:p.Gly30377=
XM_024453095.1:c.91128T>C (TTN) XP_024308863.1:p.Gly30376=
XM_024453096.1:c.90561T>C (TTN) XP_024308864.1:p.Gly30187=
XM_024453097.1:c.87903T>C (TTN) XP_024308865.1:p.Gly29301=
XM_024453098.1:c.87822T>C (TTN) XP_024308866.1:p.Gly29274=
XM_024453099.1:c.69585T>C (TTN) XP_024308867.1:p.Gly23195=
XM_024453100.1:c.59439T>C (TTN) XP_024308868.1:p.Gly19813=