Canonical Allele Identifier: CA430249654

Linked Data

MyVariant Identifiers: chr2:g.179427042A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562315A>G , CM000664.2:g.178562315A>G GRCh38
NC_000002.11:g.179427042A>G , CM000664.1:g.179427042A>G GRCh37
NC_000002.10:g.179135288A>G NCBI36
NG_011618.3:g.273488T>C , LRG_391:g.273488T>C
NG_051363.1:g.44489A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76113T>C (TTN) ENSP00000343764.6:p.Val25371=
ENST00000342175.11:c.57198T>C (TTN) ENSP00000340554.6:p.Val19066=
ENST00000359218.10:c.56997T>C (TTN) ENSP00000352154.5:p.Val18999=
ENST00000342175.10:c.57198T>C (TTN) ENSP00000340554.6:p.Val19066=
ENST00000342992.10:c.76113T>C (TTN) ENSP00000343764.6:p.Val25371=
ENST00000359218.9:c.56997T>C (TTN) ENSP00000352154.5:p.Val18999=
ENST00000460472.6:c.56622T>C (TTN) ENSP00000434586.1:p.Val18874=
ENST00000589042.5:c.83817T>C (TTN) MANE Select ENSP00000467141.1:p.Val27939=
ENST00000591111.5:c.78894T>C (TTN) ENSP00000465570.1:p.Val26298=
ENST00000615779.4:c.78894T>C (TTN) ENSP00000483597.1:p.Val26298=
NM_001256850.1:c.78894T>C (TTN) NP_001243779.1:p.Val26298=
NM_001267550.2:c.83817T>C (TTN) MANE Select NP_001254479.2:p.Val27939=
NM_003319.4:c.56622T>C (TTN) NP_003310.4:p.Val18874=
NM_133378.4:c.76113T>C (TTN) NP_596869.4:p.Val25371=
NM_133432.3:c.56997T>C (TTN) NP_597676.3:p.Val18999=
NM_133437.4:c.57198T>C (TTN) NP_597681.4:p.Val19066=
NR_038271.1:n.447-8985A>G (TTN-AS1)
NR_038272.1:n.2043+19954A>G (TTN-AS1)
XM_011511729.1:c.82914T>C (TTN) XP_011510031.1:p.Val27638=
XM_011511730.1:c.56808T>C (TTN) XP_011510032.1:p.Val18936=
XM_011511731.1:c.56667T>C (TTN) XP_011510033.1:p.Val18889=
XM_017004819.1:c.82710T>C (TTN) XP_016860308.1:p.Val27570=
XM_017004820.1:c.78108T>C (TTN) XP_016860309.1:p.Val26036=
XM_017004821.1:c.78105T>C (TTN) XP_016860310.1:p.Val26035=
XM_017004822.1:c.75147T>C (TTN) XP_016860311.1:p.Val25049=
XM_017004823.1:c.56763T>C (TTN) XP_016860312.1:p.Val18921=
XM_024453094.1:c.78258T>C (TTN) XP_024308862.1:p.Val26086=
XM_024453095.1:c.78255T>C (TTN) XP_024308863.1:p.Val26085=
XM_024453096.1:c.77688T>C (TTN) XP_024308864.1:p.Val25896=
XM_024453097.1:c.75030T>C (TTN) XP_024308865.1:p.Val25010=
XM_024453098.1:c.74949T>C (TTN) XP_024308866.1:p.Val24983=
XM_024453099.1:c.56712T>C (TTN) XP_024308867.1:p.Val18904=
XM_024453100.1:c.46566T>C (TTN) XP_024308868.1:p.Val15522=