Canonical Allele Identifier: CA430245634

Linked Data

MyVariant Identifiers: chr2:g.179417408A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552681A>G , CM000664.2:g.178552681A>G GRCh38
NC_000002.11:g.179417408A>G , CM000664.1:g.179417408A>G GRCh37
NC_000002.10:g.179125654A>G NCBI36
NG_011618.3:g.283122T>C , LRG_391:g.283122T>C
NG_051363.1:g.34855A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82515T>C (TTN) ENSP00000343764.6:p.Gly27505=
ENST00000342175.11:c.63600T>C (TTN) ENSP00000340554.6:p.Gly21200=
ENST00000359218.10:c.63399T>C (TTN) ENSP00000352154.5:p.Gly21133=
ENST00000342175.10:c.63600T>C (TTN) ENSP00000340554.6:p.Gly21200=
ENST00000342992.10:c.82515T>C (TTN) ENSP00000343764.6:p.Gly27505=
ENST00000359218.9:c.63399T>C (TTN) ENSP00000352154.5:p.Gly21133=
ENST00000460472.6:c.63024T>C (TTN) ENSP00000434586.1:p.Gly21008=
ENST00000589042.5:c.90219T>C (TTN) MANE Select ENSP00000467141.1:p.Gly30073=
ENST00000591111.5:c.85296T>C (TTN) ENSP00000465570.1:p.Gly28432=
ENST00000615779.4:c.85296T>C (TTN) ENSP00000483597.1:p.Gly28432=
NM_001256850.1:c.85296T>C (TTN) NP_001243779.1:p.Gly28432=
NM_001267550.2:c.90219T>C (TTN) MANE Select NP_001254479.2:p.Gly30073=
NM_003319.4:c.63024T>C (TTN) NP_003310.4:p.Gly21008=
NM_133378.4:c.82515T>C (TTN) NP_596869.4:p.Gly27505=
NM_133432.3:c.63399T>C (TTN) NP_597676.3:p.Gly21133=
NM_133437.4:c.63600T>C (TTN) NP_597681.4:p.Gly21200=
NR_038271.1:n.447-18619A>G (TTN-AS1)
NR_038272.1:n.2043+10320A>G (TTN-AS1)
XM_011511729.1:c.89316T>C (TTN) XP_011510031.1:p.Gly29772=
XM_011511730.1:c.63210T>C (TTN) XP_011510032.1:p.Gly21070=
XM_011511731.1:c.63069T>C (TTN) XP_011510033.1:p.Gly21023=
XM_017004819.1:c.89112T>C (TTN) XP_016860308.1:p.Gly29704=
XM_017004820.1:c.84510T>C (TTN) XP_016860309.1:p.Gly28170=
XM_017004821.1:c.84507T>C (TTN) XP_016860310.1:p.Gly28169=
XM_017004822.1:c.81549T>C (TTN) XP_016860311.1:p.Gly27183=
XM_017004823.1:c.63165T>C (TTN) XP_016860312.1:p.Gly21055=
XM_024453094.1:c.84660T>C (TTN) XP_024308862.1:p.Gly28220=
XM_024453095.1:c.84657T>C (TTN) XP_024308863.1:p.Gly28219=
XM_024453096.1:c.84090T>C (TTN) XP_024308864.1:p.Gly28030=
XM_024453097.1:c.81432T>C (TTN) XP_024308865.1:p.Gly27144=
XM_024453098.1:c.81351T>C (TTN) XP_024308866.1:p.Gly27117=
XM_024453099.1:c.63114T>C (TTN) XP_024308867.1:p.Gly21038=
XM_024453100.1:c.52968T>C (TTN) XP_024308868.1:p.Gly17656=