Canonical Allele Identifier: CA430254192

Linked Data

MyVariant Identifiers: chr2:g.179434053T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569326T>G , CM000664.2:g.178569326T>G GRCh38
NC_000002.11:g.179434053T>G , CM000664.1:g.179434053T>G GRCh37
NC_000002.10:g.179142299T>G NCBI36
NG_011618.3:g.266477A>C , LRG_391:g.266477A>C
NG_051363.1:g.51500T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69102A>C (TTN) ENSP00000343764.6:p.Pro23034=
ENST00000342175.11:c.50187A>C (TTN) ENSP00000340554.6:p.Pro16729=
ENST00000359218.10:c.49986A>C (TTN) ENSP00000352154.5:p.Pro16662=
ENST00000342175.10:c.50187A>C (TTN) ENSP00000340554.6:p.Pro16729=
ENST00000342992.10:c.69102A>C (TTN) ENSP00000343764.6:p.Pro23034=
ENST00000359218.9:c.49986A>C (TTN) ENSP00000352154.5:p.Pro16662=
ENST00000460472.6:c.49611A>C (TTN) ENSP00000434586.1:p.Pro16537=
ENST00000589042.5:c.76806A>C (TTN) MANE Select ENSP00000467141.1:p.Pro25602=
ENST00000591111.5:c.71883A>C (TTN) ENSP00000465570.1:p.Pro23961=
ENST00000615779.4:c.71883A>C (TTN) ENSP00000483597.1:p.Pro23961=
NM_001256850.1:c.71883A>C (TTN) NP_001243779.1:p.Pro23961=
NM_001267550.2:c.76806A>C (TTN) MANE Select NP_001254479.2:p.Pro25602=
NM_003319.4:c.49611A>C (TTN) NP_003310.4:p.Pro16537=
NM_133378.4:c.69102A>C (TTN) NP_596869.4:p.Pro23034=
NM_133432.3:c.49986A>C (TTN) NP_597676.3:p.Pro16662=
NM_133437.4:c.50187A>C (TTN) NP_597681.4:p.Pro16729=
NR_038271.1:n.447-1974T>G (TTN-AS1)
NR_038272.1:n.2044-13246T>G (TTN-AS1)
XM_011511729.1:c.75903A>C (TTN) XP_011510031.1:p.Pro25301=
XM_011511730.1:c.49797A>C (TTN) XP_011510032.1:p.Pro16599=
XM_011511731.1:c.49656A>C (TTN) XP_011510033.1:p.Pro16552=
XM_017004819.1:c.75699A>C (TTN) XP_016860308.1:p.Pro25233=
XM_017004820.1:c.71097A>C (TTN) XP_016860309.1:p.Pro23699=
XM_017004821.1:c.71094A>C (TTN) XP_016860310.1:p.Pro23698=
XM_017004822.1:c.68136A>C (TTN) XP_016860311.1:p.Pro22712=
XM_017004823.1:c.49752A>C (TTN) XP_016860312.1:p.Pro16584=
XM_024453094.1:c.71247A>C (TTN) XP_024308862.1:p.Pro23749=
XM_024453095.1:c.71244A>C (TTN) XP_024308863.1:p.Pro23748=
XM_024453096.1:c.70677A>C (TTN) XP_024308864.1:p.Pro23559=
XM_024453097.1:c.68019A>C (TTN) XP_024308865.1:p.Pro22673=
XM_024453098.1:c.67938A>C (TTN) XP_024308866.1:p.Pro22646=
XM_024453099.1:c.49701A>C (TTN) XP_024308867.1:p.Pro16567=
XM_024453100.1:c.39555A>C (TTN) XP_024308868.1:p.Pro13185=