Canonical Allele Identifier: CA430244760

Linked Data

MyVariant Identifiers: chr2:g.179414487G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549760G>A , CM000664.2:g.178549760G>A GRCh38
NC_000002.11:g.179414487G>A , CM000664.1:g.179414487G>A GRCh37
NC_000002.10:g.179122733G>A NCBI36
NG_011618.3:g.286043C>T , LRG_391:g.286043C>T
NG_051363.1:g.31934G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84258C>T (TTN) ENSP00000343764.6:p.His28086=
ENST00000342175.11:c.65343C>T (TTN) ENSP00000340554.6:p.His21781=
ENST00000359218.10:c.65142C>T (TTN) ENSP00000352154.5:p.His21714=
ENST00000342175.10:c.65343C>T (TTN) ENSP00000340554.6:p.His21781=
ENST00000342992.10:c.84258C>T (TTN) ENSP00000343764.6:p.His28086=
ENST00000359218.9:c.65142C>T (TTN) ENSP00000352154.5:p.His21714=
ENST00000460472.6:c.64767C>T (TTN) ENSP00000434586.1:p.His21589=
ENST00000589042.5:c.91962C>T (TTN) MANE Select ENSP00000467141.1:p.His30654=
ENST00000591111.5:c.87039C>T (TTN) ENSP00000465570.1:p.His29013=
ENST00000615779.4:c.87039C>T (TTN) ENSP00000483597.1:p.His29013=
NM_001256850.1:c.87039C>T (TTN) NP_001243779.1:p.His29013=
NM_001267550.2:c.91962C>T (TTN) MANE Select NP_001254479.2:p.His30654=
NM_003319.4:c.64767C>T (TTN) NP_003310.4:p.His21589=
NM_133378.4:c.84258C>T (TTN) NP_596869.4:p.His28086=
NM_133432.3:c.65142C>T (TTN) NP_597676.3:p.His21714=
NM_133437.4:c.65343C>T (TTN) NP_597681.4:p.His21781=
NR_038271.1:n.447-21540G>A (TTN-AS1)
NR_038272.1:n.2043+7399G>A (TTN-AS1)
XM_011511729.1:c.91059C>T (TTN) XP_011510031.1:p.His30353=
XM_011511730.1:c.64953C>T (TTN) XP_011510032.1:p.His21651=
XM_011511731.1:c.64812C>T (TTN) XP_011510033.1:p.His21604=
XM_017004819.1:c.90855C>T (TTN) XP_016860308.1:p.His30285=
XM_017004820.1:c.86253C>T (TTN) XP_016860309.1:p.His28751=
XM_017004821.1:c.86250C>T (TTN) XP_016860310.1:p.His28750=
XM_017004822.1:c.83292C>T (TTN) XP_016860311.1:p.His27764=
XM_017004823.1:c.64908C>T (TTN) XP_016860312.1:p.His21636=
XM_024453094.1:c.86403C>T (TTN) XP_024308862.1:p.His28801=
XM_024453095.1:c.86400C>T (TTN) XP_024308863.1:p.His28800=
XM_024453096.1:c.85833C>T (TTN) XP_024308864.1:p.His28611=
XM_024453097.1:c.83175C>T (TTN) XP_024308865.1:p.His27725=
XM_024453098.1:c.83094C>T (TTN) XP_024308866.1:p.His27698=
XM_024453099.1:c.64857C>T (TTN) XP_024308867.1:p.His21619=
XM_024453100.1:c.54711C>T (TTN) XP_024308868.1:p.His18237=