Canonical Allele Identifier: CA430257718

Linked Data

MyVariant Identifiers: chr2:g.179439624G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574897G>A , CM000664.2:g.178574897G>A GRCh38
NC_000002.11:g.179439624G>A , CM000664.1:g.179439624G>A GRCh37
NC_000002.10:g.179147870G>A NCBI36
NG_011618.3:g.260906C>T , LRG_391:g.260906C>T
NG_051363.1:g.57071G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.63531C>T (TTN) ENSP00000343764.6:p.Thr21177=
ENST00000342175.11:c.44616C>T (TTN) ENSP00000340554.6:p.Thr14872=
ENST00000359218.10:c.44415C>T (TTN) ENSP00000352154.5:p.Thr14805=
ENST00000342175.10:c.44616C>T (TTN) ENSP00000340554.6:p.Thr14872=
ENST00000342992.10:c.63531C>T (TTN) ENSP00000343764.6:p.Thr21177=
ENST00000359218.9:c.44415C>T (TTN) ENSP00000352154.5:p.Thr14805=
ENST00000460472.6:c.44040C>T (TTN) ENSP00000434586.1:p.Thr14680=
ENST00000589042.5:c.71235C>T (TTN) MANE Select ENSP00000467141.1:p.Thr23745=
ENST00000591111.5:c.66312C>T (TTN) ENSP00000465570.1:p.Thr22104=
ENST00000615779.4:c.66312C>T (TTN) ENSP00000483597.1:p.Thr22104=
NM_001256850.1:c.66312C>T (TTN) NP_001243779.1:p.Thr22104=
NM_001267550.2:c.71235C>T (TTN) MANE Select NP_001254479.2:p.Thr23745=
NM_003319.4:c.44040C>T (TTN) NP_003310.4:p.Thr14680=
NM_133378.4:c.63531C>T (TTN) NP_596869.4:p.Thr21177=
NM_133432.3:c.44415C>T (TTN) NP_597676.3:p.Thr14805=
NM_133437.4:c.44616C>T (TTN) NP_597681.4:p.Thr14872=
NR_038271.1:n.596+3448G>A (TTN-AS1)
NR_038272.1:n.2044-7675G>A (TTN-AS1)
XM_011511729.1:c.70332C>T (TTN) XP_011510031.1:p.Thr23444=
XM_011511730.1:c.44226C>T (TTN) XP_011510032.1:p.Thr14742=
XM_011511731.1:c.44085C>T (TTN) XP_011510033.1:p.Thr14695=
XM_017004819.1:c.70128C>T (TTN) XP_016860308.1:p.Thr23376=
XM_017004820.1:c.65526C>T (TTN) XP_016860309.1:p.Thr21842=
XM_017004821.1:c.65523C>T (TTN) XP_016860310.1:p.Thr21841=
XM_017004822.1:c.62565C>T (TTN) XP_016860311.1:p.Thr20855=
XM_017004823.1:c.44181C>T (TTN) XP_016860312.1:p.Thr14727=
XM_024453094.1:c.65676C>T (TTN) XP_024308862.1:p.Thr21892=
XM_024453095.1:c.65673C>T (TTN) XP_024308863.1:p.Thr21891=
XM_024453096.1:c.65106C>T (TTN) XP_024308864.1:p.Thr21702=
XM_024453097.1:c.62448C>T (TTN) XP_024308865.1:p.Thr20816=
XM_024453098.1:c.62367C>T (TTN) XP_024308866.1:p.Thr20789=
XM_024453099.1:c.44130C>T (TTN) XP_024308867.1:p.Thr14710=
XM_024453100.1:c.33984C>T (TTN) XP_024308868.1:p.Thr11328=