Canonical Allele Identifier: CA430241945

Linked Data

MyVariant Identifiers: chr2:g.179409139A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544412A>G , CM000664.2:g.178544412A>G GRCh38
NC_000002.11:g.179409139A>G , CM000664.1:g.179409139A>G GRCh37
NC_000002.10:g.179117385A>G NCBI36
NG_011618.3:g.291391T>C , LRG_391:g.291391T>C
NG_051363.1:g.26586A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88113T>C (TTN) ENSP00000343764.6:p.Thr29371=
ENST00000342175.11:c.69198T>C (TTN) ENSP00000340554.6:p.Thr23066=
ENST00000359218.10:c.68997T>C (TTN) ENSP00000352154.5:p.Thr22999=
ENST00000342175.10:c.69198T>C (TTN) ENSP00000340554.6:p.Thr23066=
ENST00000342992.10:c.88113T>C (TTN) ENSP00000343764.6:p.Thr29371=
ENST00000359218.9:c.68997T>C (TTN) ENSP00000352154.5:p.Thr22999=
ENST00000460472.6:c.68622T>C (TTN) ENSP00000434586.1:p.Thr22874=
ENST00000589042.5:c.95817T>C (TTN) MANE Select ENSP00000467141.1:p.Thr31939=
ENST00000591111.5:c.90894T>C (TTN) ENSP00000465570.1:p.Thr30298=
ENST00000615779.4:c.90894T>C (TTN) ENSP00000483597.1:p.Thr30298=
NM_001256850.1:c.90894T>C (TTN) NP_001243779.1:p.Thr30298=
NM_001267550.2:c.95817T>C (TTN) MANE Select NP_001254479.2:p.Thr31939=
NM_003319.4:c.68622T>C (TTN) NP_003310.4:p.Thr22874=
NM_133378.4:c.88113T>C (TTN) NP_596869.4:p.Thr29371=
NM_133432.3:c.68997T>C (TTN) NP_597676.3:p.Thr22999=
NM_133437.4:c.69198T>C (TTN) NP_597681.4:p.Thr23066=
NR_038271.1:n.446+20776A>G (TTN-AS1)
NR_038272.1:n.2043+2051A>G (TTN-AS1)
XM_011511729.1:c.94914T>C (TTN) XP_011510031.1:p.Thr31638=
XM_011511730.1:c.68808T>C (TTN) XP_011510032.1:p.Thr22936=
XM_011511731.1:c.68667T>C (TTN) XP_011510033.1:p.Thr22889=
XM_017004819.1:c.94710T>C (TTN) XP_016860308.1:p.Thr31570=
XM_017004820.1:c.90108T>C (TTN) XP_016860309.1:p.Thr30036=
XM_017004821.1:c.90105T>C (TTN) XP_016860310.1:p.Thr30035=
XM_017004822.1:c.87147T>C (TTN) XP_016860311.1:p.Thr29049=
XM_017004823.1:c.68763T>C (TTN) XP_016860312.1:p.Thr22921=
XM_024453094.1:c.90258T>C (TTN) XP_024308862.1:p.Thr30086=
XM_024453095.1:c.90255T>C (TTN) XP_024308863.1:p.Thr30085=
XM_024453096.1:c.89688T>C (TTN) XP_024308864.1:p.Thr29896=
XM_024453097.1:c.87030T>C (TTN) XP_024308865.1:p.Thr29010=
XM_024453098.1:c.86949T>C (TTN) XP_024308866.1:p.Thr28983=
XM_024453099.1:c.68712T>C (TTN) XP_024308867.1:p.Thr22904=
XM_024453100.1:c.58566T>C (TTN) XP_024308868.1:p.Thr19522=