Canonical Allele Identifier: CA430254407

Linked Data

MyVariant Identifiers: chr2:g.179434602T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569875T>C , CM000664.2:g.178569875T>C GRCh38
NC_000002.11:g.179434602T>C , CM000664.1:g.179434602T>C GRCh37
NC_000002.10:g.179142848T>C NCBI36
NG_011618.3:g.265928A>G , LRG_391:g.265928A>G
NG_051363.1:g.52049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.68553A>G (TTN) ENSP00000343764.6:p.Arg22851=
ENST00000342175.11:c.49638A>G (TTN) ENSP00000340554.6:p.Arg16546=
ENST00000359218.10:c.49437A>G (TTN) ENSP00000352154.5:p.Arg16479=
ENST00000342175.10:c.49638A>G (TTN) ENSP00000340554.6:p.Arg16546=
ENST00000342992.10:c.68553A>G (TTN) ENSP00000343764.6:p.Arg22851=
ENST00000359218.9:c.49437A>G (TTN) ENSP00000352154.5:p.Arg16479=
ENST00000460472.6:c.49062A>G (TTN) ENSP00000434586.1:p.Arg16354=
ENST00000589042.5:c.76257A>G (TTN) MANE Select ENSP00000467141.1:p.Arg25419=
ENST00000591111.5:c.71334A>G (TTN) ENSP00000465570.1:p.Arg23778=
ENST00000615779.4:c.71334A>G (TTN) ENSP00000483597.1:p.Arg23778=
NM_001256850.1:c.71334A>G (TTN) NP_001243779.1:p.Arg23778=
NM_001267550.2:c.76257A>G (TTN) MANE Select NP_001254479.2:p.Arg25419=
NM_003319.4:c.49062A>G (TTN) NP_003310.4:p.Arg16354=
NM_133378.4:c.68553A>G (TTN) NP_596869.4:p.Arg22851=
NM_133432.3:c.49437A>G (TTN) NP_597676.3:p.Arg16479=
NM_133437.4:c.49638A>G (TTN) NP_597681.4:p.Arg16546=
NR_038271.1:n.447-1425T>C (TTN-AS1)
NR_038272.1:n.2044-12697T>C (TTN-AS1)
XM_011511729.1:c.75354A>G (TTN) XP_011510031.1:p.Arg25118=
XM_011511730.1:c.49248A>G (TTN) XP_011510032.1:p.Arg16416=
XM_011511731.1:c.49107A>G (TTN) XP_011510033.1:p.Arg16369=
XM_017004819.1:c.75150A>G (TTN) XP_016860308.1:p.Arg25050=
XM_017004820.1:c.70548A>G (TTN) XP_016860309.1:p.Arg23516=
XM_017004821.1:c.70545A>G (TTN) XP_016860310.1:p.Arg23515=
XM_017004822.1:c.67587A>G (TTN) XP_016860311.1:p.Arg22529=
XM_017004823.1:c.49203A>G (TTN) XP_016860312.1:p.Arg16401=
XM_024453094.1:c.70698A>G (TTN) XP_024308862.1:p.Arg23566=
XM_024453095.1:c.70695A>G (TTN) XP_024308863.1:p.Arg23565=
XM_024453096.1:c.70128A>G (TTN) XP_024308864.1:p.Arg23376=
XM_024453097.1:c.67470A>G (TTN) XP_024308865.1:p.Arg22490=
XM_024453098.1:c.67389A>G (TTN) XP_024308866.1:p.Arg22463=
XM_024453099.1:c.49152A>G (TTN) XP_024308867.1:p.Arg16384=
XM_024453100.1:c.39006A>G (TTN) XP_024308868.1:p.Arg13002=