Canonical Allele Identifier: CA430260366

Linked Data

MyVariant Identifiers: chr2:g.179444391T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579664T>C , CM000664.2:g.178579664T>C GRCh38
NC_000002.11:g.179444391T>C , CM000664.1:g.179444391T>C GRCh37
NC_000002.10:g.179152637T>C NCBI36
NG_011618.3:g.256139A>G , LRG_391:g.256139A>G
NG_051363.1:g.61838T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59829A>G (TTN) ENSP00000343764.6:p.Lys19943=
ENST00000342175.11:c.40914A>G (TTN) ENSP00000340554.6:p.Lys13638=
ENST00000359218.10:c.40713A>G (TTN) ENSP00000352154.5:p.Lys13571=
ENST00000342175.10:c.40914A>G (TTN) ENSP00000340554.6:p.Lys13638=
ENST00000342992.10:c.59829A>G (TTN) ENSP00000343764.6:p.Lys19943=
ENST00000359218.9:c.40713A>G (TTN) ENSP00000352154.5:p.Lys13571=
ENST00000460472.6:c.40338A>G (TTN) ENSP00000434586.1:p.Lys13446=
ENST00000589042.5:c.67533A>G (TTN) MANE Select ENSP00000467141.1:p.Lys22511=
ENST00000591111.5:c.62610A>G (TTN) ENSP00000465570.1:p.Lys20870=
ENST00000615779.4:c.62610A>G (TTN) ENSP00000483597.1:p.Lys20870=
NM_001256850.1:c.62610A>G (TTN) NP_001243779.1:p.Lys20870=
NM_001267550.2:c.67533A>G (TTN) MANE Select NP_001254479.2:p.Lys22511=
NM_003319.4:c.40338A>G (TTN) NP_003310.4:p.Lys13446=
NM_133378.4:c.59829A>G (TTN) NP_596869.4:p.Lys19943=
NM_133432.3:c.40713A>G (TTN) NP_597676.3:p.Lys13571=
NM_133437.4:c.40914A>G (TTN) NP_597681.4:p.Lys13638=
NR_038271.1:n.596+8215T>C (TTN-AS1)
NR_038272.1:n.2044-2908T>C (TTN-AS1)
XM_011511729.1:c.66630A>G (TTN) XP_011510031.1:p.Lys22210=
XM_011511730.1:c.40524A>G (TTN) XP_011510032.1:p.Lys13508=
XM_011511731.1:c.40383A>G (TTN) XP_011510033.1:p.Lys13461=
XM_017004819.1:c.66426A>G (TTN) XP_016860308.1:p.Lys22142=
XM_017004820.1:c.61824A>G (TTN) XP_016860309.1:p.Lys20608=
XM_017004821.1:c.61821A>G (TTN) XP_016860310.1:p.Lys20607=
XM_017004822.1:c.58863A>G (TTN) XP_016860311.1:p.Lys19621=
XM_017004823.1:c.40479A>G (TTN) XP_016860312.1:p.Lys13493=
XM_024453094.1:c.61974A>G (TTN) XP_024308862.1:p.Lys20658=
XM_024453095.1:c.61971A>G (TTN) XP_024308863.1:p.Lys20657=
XM_024453096.1:c.61404A>G (TTN) XP_024308864.1:p.Lys20468=
XM_024453097.1:c.58746A>G (TTN) XP_024308865.1:p.Lys19582=
XM_024453098.1:c.58665A>G (TTN) XP_024308866.1:p.Lys19555=
XM_024453099.1:c.40428A>G (TTN) XP_024308867.1:p.Lys13476=
XM_024453100.1:c.30282A>G (TTN) XP_024308868.1:p.Lys10094=