Canonical Allele Identifier: CA430267836

Linked Data

MyVariant Identifiers: chr2:g.179457779T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593052T>C , CM000664.2:g.178593052T>C GRCh38
NC_000002.11:g.179457779T>C , CM000664.1:g.179457779T>C GRCh37
NC_000002.10:g.179166025T>C NCBI36
NG_011618.3:g.242751A>G , LRG_391:g.242751A>G
NG_051363.1:g.75226T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51363A>G (TTN) ENSP00000343764.6:p.Ala17121=
ENST00000342175.11:c.32448A>G (TTN) ENSP00000340554.6:p.Ala10816=
ENST00000359218.10:c.32247A>G (TTN) ENSP00000352154.5:p.Ala10749=
ENST00000342175.10:c.32448A>G (TTN) ENSP00000340554.6:p.Ala10816=
ENST00000342992.10:c.51363A>G (TTN) ENSP00000343764.6:p.Ala17121=
ENST00000359218.9:c.32247A>G (TTN) ENSP00000352154.5:p.Ala10749=
ENST00000460472.6:c.31872A>G (TTN) ENSP00000434586.1:p.Ala10624=
ENST00000589042.5:c.59067A>G (TTN) MANE Select ENSP00000467141.1:p.Ala19689=
ENST00000591111.5:c.54144A>G (TTN) ENSP00000465570.1:p.Ala18048=
ENST00000615779.4:c.54144A>G (TTN) ENSP00000483597.1:p.Ala18048=
NM_001256850.1:c.54144A>G (TTN) NP_001243779.1:p.Ala18048=
NM_001267550.2:c.59067A>G (TTN) MANE Select NP_001254479.2:p.Ala19689=
NM_003319.4:c.31872A>G (TTN) NP_003310.4:p.Ala10624=
NM_133378.4:c.51363A>G (TTN) NP_596869.4:p.Ala17121=
NM_133432.3:c.32247A>G (TTN) NP_597676.3:p.Ala10749=
NM_133437.4:c.32448A>G (TTN) NP_597681.4:p.Ala10816=
NR_038271.1:n.597-4544T>C (TTN-AS1)
NR_038272.1:n.3364+1738T>C (TTN-AS1)
XM_011511729.1:c.58164A>G (TTN) XP_011510031.1:p.Ala19388=
XM_011511730.1:c.32058A>G (TTN) XP_011510032.1:p.Ala10686=
XM_011511731.1:c.31917A>G (TTN) XP_011510033.1:p.Ala10639=
XM_017004819.1:c.57960A>G (TTN) XP_016860308.1:p.Ala19320=
XM_017004820.1:c.53358A>G (TTN) XP_016860309.1:p.Ala17786=
XM_017004821.1:c.53355A>G (TTN) XP_016860310.1:p.Ala17785=
XM_017004822.1:c.50397A>G (TTN) XP_016860311.1:p.Ala16799=
XM_017004823.1:c.32013A>G (TTN) XP_016860312.1:p.Ala10671=
XM_024453094.1:c.53508A>G (TTN) XP_024308862.1:p.Ala17836=
XM_024453095.1:c.53505A>G (TTN) XP_024308863.1:p.Ala17835=
XM_024453096.1:c.52938A>G (TTN) XP_024308864.1:p.Ala17646=
XM_024453097.1:c.50280A>G (TTN) XP_024308865.1:p.Ala16760=
XM_024453098.1:c.50199A>G (TTN) XP_024308866.1:p.Ala16733=
XM_024453099.1:c.31962A>G (TTN) XP_024308867.1:p.Ala10654=
XM_024453100.1:c.21816A>G (TTN) XP_024308868.1:p.Ala7272=