Canonical Allele Identifier: CA430241544

Linked Data

MyVariant Identifiers: chr2:g.179408610A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543883A>G , CM000664.2:g.178543883A>G GRCh38
NC_000002.11:g.179408610A>G , CM000664.1:g.179408610A>G GRCh37
NC_000002.10:g.179116856A>G NCBI36
NG_011618.3:g.291920T>C , LRG_391:g.291920T>C
NG_051363.1:g.26057A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88557T>C (TTN) ENSP00000343764.6:p.Ala29519=
ENST00000342175.11:c.69642T>C (TTN) ENSP00000340554.6:p.Ala23214=
ENST00000359218.10:c.69441T>C (TTN) ENSP00000352154.5:p.Ala23147=
ENST00000342175.10:c.69642T>C (TTN) ENSP00000340554.6:p.Ala23214=
ENST00000342992.10:c.88557T>C (TTN) ENSP00000343764.6:p.Ala29519=
ENST00000359218.9:c.69441T>C (TTN) ENSP00000352154.5:p.Ala23147=
ENST00000460472.6:c.69066T>C (TTN) ENSP00000434586.1:p.Ala23022=
ENST00000589042.5:c.96261T>C (TTN) MANE Select ENSP00000467141.1:p.Ala32087=
ENST00000591111.5:c.91338T>C (TTN) ENSP00000465570.1:p.Ala30446=
ENST00000615779.4:c.91338T>C (TTN) ENSP00000483597.1:p.Ala30446=
NM_001256850.1:c.91338T>C (TTN) NP_001243779.1:p.Ala30446=
NM_001267550.2:c.96261T>C (TTN) MANE Select NP_001254479.2:p.Ala32087=
NM_003319.4:c.69066T>C (TTN) NP_003310.4:p.Ala23022=
NM_133378.4:c.88557T>C (TTN) NP_596869.4:p.Ala29519=
NM_133432.3:c.69441T>C (TTN) NP_597676.3:p.Ala23147=
NM_133437.4:c.69642T>C (TTN) NP_597681.4:p.Ala23214=
NR_038271.1:n.446+20247A>G (TTN-AS1)
NR_038272.1:n.2043+1522A>G (TTN-AS1)
XM_011511729.1:c.95358T>C (TTN) XP_011510031.1:p.Ala31786=
XM_011511730.1:c.69252T>C (TTN) XP_011510032.1:p.Ala23084=
XM_011511731.1:c.69111T>C (TTN) XP_011510033.1:p.Ala23037=
XM_017004819.1:c.95154T>C (TTN) XP_016860308.1:p.Ala31718=
XM_017004820.1:c.90552T>C (TTN) XP_016860309.1:p.Ala30184=
XM_017004821.1:c.90549T>C (TTN) XP_016860310.1:p.Ala30183=
XM_017004822.1:c.87591T>C (TTN) XP_016860311.1:p.Ala29197=
XM_017004823.1:c.69207T>C (TTN) XP_016860312.1:p.Ala23069=
XM_024453094.1:c.90702T>C (TTN) XP_024308862.1:p.Ala30234=
XM_024453095.1:c.90699T>C (TTN) XP_024308863.1:p.Ala30233=
XM_024453096.1:c.90132T>C (TTN) XP_024308864.1:p.Ala30044=
XM_024453097.1:c.87474T>C (TTN) XP_024308865.1:p.Ala29158=
XM_024453098.1:c.87393T>C (TTN) XP_024308866.1:p.Ala29131=
XM_024453099.1:c.69156T>C (TTN) XP_024308867.1:p.Ala23052=
XM_024453100.1:c.59010T>C (TTN) XP_024308868.1:p.Ala19670=