Canonical Allele Identifier: CA430245376

Linked Data

MyVariant Identifiers: chr2:g.179416565T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551838T>G , CM000664.2:g.178551838T>G GRCh38
NC_000002.11:g.179416565T>G , CM000664.1:g.179416565T>G GRCh37
NC_000002.10:g.179124811T>G NCBI36
NG_011618.3:g.283965A>C , LRG_391:g.283965A>C
NG_051363.1:g.34012T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83358A>C (TTN) ENSP00000343764.6:p.Ser27786=
ENST00000342175.11:c.64443A>C (TTN) ENSP00000340554.6:p.Ser21481=
ENST00000359218.10:c.64242A>C (TTN) ENSP00000352154.5:p.Ser21414=
ENST00000342175.10:c.64443A>C (TTN) ENSP00000340554.6:p.Ser21481=
ENST00000342992.10:c.83358A>C (TTN) ENSP00000343764.6:p.Ser27786=
ENST00000359218.9:c.64242A>C (TTN) ENSP00000352154.5:p.Ser21414=
ENST00000460472.6:c.63867A>C (TTN) ENSP00000434586.1:p.Ser21289=
ENST00000589042.5:c.91062A>C (TTN) MANE Select ENSP00000467141.1:p.Ser30354=
ENST00000591111.5:c.86139A>C (TTN) ENSP00000465570.1:p.Ser28713=
ENST00000615779.4:c.86139A>C (TTN) ENSP00000483597.1:p.Ser28713=
NM_001256850.1:c.86139A>C (TTN) NP_001243779.1:p.Ser28713=
NM_001267550.2:c.91062A>C (TTN) MANE Select NP_001254479.2:p.Ser30354=
NM_003319.4:c.63867A>C (TTN) NP_003310.4:p.Ser21289=
NM_133378.4:c.83358A>C (TTN) NP_596869.4:p.Ser27786=
NM_133432.3:c.64242A>C (TTN) NP_597676.3:p.Ser21414=
NM_133437.4:c.64443A>C (TTN) NP_597681.4:p.Ser21481=
NR_038271.1:n.447-19462T>G (TTN-AS1)
NR_038272.1:n.2043+9477T>G (TTN-AS1)
XM_011511729.1:c.90159A>C (TTN) XP_011510031.1:p.Ser30053=
XM_011511730.1:c.64053A>C (TTN) XP_011510032.1:p.Ser21351=
XM_011511731.1:c.63912A>C (TTN) XP_011510033.1:p.Ser21304=
XM_017004819.1:c.89955A>C (TTN) XP_016860308.1:p.Ser29985=
XM_017004820.1:c.85353A>C (TTN) XP_016860309.1:p.Ser28451=
XM_017004821.1:c.85350A>C (TTN) XP_016860310.1:p.Ser28450=
XM_017004822.1:c.82392A>C (TTN) XP_016860311.1:p.Ser27464=
XM_017004823.1:c.64008A>C (TTN) XP_016860312.1:p.Ser21336=
XM_024453094.1:c.85503A>C (TTN) XP_024308862.1:p.Ser28501=
XM_024453095.1:c.85500A>C (TTN) XP_024308863.1:p.Ser28500=
XM_024453096.1:c.84933A>C (TTN) XP_024308864.1:p.Ser28311=
XM_024453097.1:c.82275A>C (TTN) XP_024308865.1:p.Ser27425=
XM_024453098.1:c.82194A>C (TTN) XP_024308866.1:p.Ser27398=
XM_024453099.1:c.63957A>C (TTN) XP_024308867.1:p.Ser21319=
XM_024453100.1:c.53811A>C (TTN) XP_024308868.1:p.Ser17937=