Canonical Allele Identifier: CA430271221

Linked Data

MyVariant Identifiers: chr2:g.179472408A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607681A>C , CM000664.2:g.178607681A>C GRCh38
NC_000002.11:g.179472408A>C , CM000664.1:g.179472408A>C GRCh37
NC_000002.10:g.179180653A>C NCBI36
NG_011618.3:g.228122T>G , LRG_391:g.228122T>G
NG_051363.1:g.89855A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45303T>G (TTN) ENSP00000343764.6:p.Pro15101=
ENST00000342175.11:c.26388T>G (TTN) ENSP00000340554.6:p.Pro8796=
ENST00000359218.10:c.26187T>G (TTN) ENSP00000352154.5:p.Pro8729=
ENST00000342175.10:c.26388T>G (TTN) ENSP00000340554.6:p.Pro8796=
ENST00000342992.10:c.45303T>G (TTN) ENSP00000343764.6:p.Pro15101=
ENST00000359218.9:c.26187T>G (TTN) ENSP00000352154.5:p.Pro8729=
ENST00000460472.6:c.25812T>G (TTN) ENSP00000434586.1:p.Pro8604=
ENST00000589042.5:c.53007T>G (TTN) MANE Select ENSP00000467141.1:p.Pro17669=
ENST00000591111.5:c.48084T>G (TTN) ENSP00000465570.1:p.Pro16028=
ENST00000615779.4:c.48084T>G (TTN) ENSP00000483597.1:p.Pro16028=
NM_001256850.1:c.48084T>G (TTN) NP_001243779.1:p.Pro16028=
NM_001267550.2:c.53007T>G (TTN) MANE Select NP_001254479.2:p.Pro17669=
NM_003319.4:c.25812T>G (TTN) NP_003310.4:p.Pro8604=
NM_133378.4:c.45303T>G (TTN) NP_596869.4:p.Pro15101=
NM_133432.3:c.26187T>G (TTN) NP_597676.3:p.Pro8729=
NM_133437.4:c.26388T>G (TTN) NP_597681.4:p.Pro8796=
NR_038271.1:n.683-486A>C (TTN-AS1)
XM_011511729.1:c.52104T>G (TTN) XP_011510031.1:p.Pro17368=
XM_011511730.1:c.25998T>G (TTN) XP_011510032.1:p.Pro8666=
XM_011511731.1:c.25857T>G (TTN) XP_011510033.1:p.Pro8619=
XM_017004819.1:c.51900T>G (TTN) XP_016860308.1:p.Pro17300=
XM_017004820.1:c.47298T>G (TTN) XP_016860309.1:p.Pro15766=
XM_017004821.1:c.47295T>G (TTN) XP_016860310.1:p.Pro15765=
XM_017004822.1:c.44337T>G (TTN) XP_016860311.1:p.Pro14779=
XM_017004823.1:c.25953T>G (TTN) XP_016860312.1:p.Pro8651=
XM_024453094.1:c.47448T>G (TTN) XP_024308862.1:p.Pro15816=
XM_024453095.1:c.47445T>G (TTN) XP_024308863.1:p.Pro15815=
XM_024453096.1:c.46878T>G (TTN) XP_024308864.1:p.Pro15626=
XM_024453097.1:c.44220T>G (TTN) XP_024308865.1:p.Pro14740=
XM_024453098.1:c.44139T>G (TTN) XP_024308866.1:p.Pro14713=
XM_024453099.1:c.25902T>G (TTN) XP_024308867.1:p.Pro8634=
XM_024453100.1:c.15756T>G (TTN) XP_024308868.1:p.Pro5252=