Canonical Allele Identifier: CA430253584

Linked Data

MyVariant Identifiers: chr2:g.179433834G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569107G>A , CM000664.2:g.178569107G>A GRCh38
NC_000002.11:g.179433834G>A , CM000664.1:g.179433834G>A GRCh37
NC_000002.10:g.179142080G>A NCBI36
NG_011618.3:g.266696C>T , LRG_391:g.266696C>T
NG_051363.1:g.51281G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69321C>T (TTN) ENSP00000343764.6:p.Val23107=
ENST00000342175.11:c.50406C>T (TTN) ENSP00000340554.6:p.Val16802=
ENST00000359218.10:c.50205C>T (TTN) ENSP00000352154.5:p.Val16735=
ENST00000342175.10:c.50406C>T (TTN) ENSP00000340554.6:p.Val16802=
ENST00000342992.10:c.69321C>T (TTN) ENSP00000343764.6:p.Val23107=
ENST00000359218.9:c.50205C>T (TTN) ENSP00000352154.5:p.Val16735=
ENST00000460472.6:c.49830C>T (TTN) ENSP00000434586.1:p.Val16610=
ENST00000589042.5:c.77025C>T (TTN) MANE Select ENSP00000467141.1:p.Val25675=
ENST00000591111.5:c.72102C>T (TTN) ENSP00000465570.1:p.Val24034=
ENST00000615779.4:c.72102C>T (TTN) ENSP00000483597.1:p.Val24034=
NM_001256850.1:c.72102C>T (TTN) NP_001243779.1:p.Val24034=
NM_001267550.2:c.77025C>T (TTN) MANE Select NP_001254479.2:p.Val25675=
NM_003319.4:c.49830C>T (TTN) NP_003310.4:p.Val16610=
NM_133378.4:c.69321C>T (TTN) NP_596869.4:p.Val23107=
NM_133432.3:c.50205C>T (TTN) NP_597676.3:p.Val16735=
NM_133437.4:c.50406C>T (TTN) NP_597681.4:p.Val16802=
NR_038271.1:n.447-2193G>A (TTN-AS1)
NR_038272.1:n.2044-13465G>A (TTN-AS1)
XM_011511729.1:c.76122C>T (TTN) XP_011510031.1:p.Val25374=
XM_011511730.1:c.50016C>T (TTN) XP_011510032.1:p.Val16672=
XM_011511731.1:c.49875C>T (TTN) XP_011510033.1:p.Val16625=
XM_017004819.1:c.75918C>T (TTN) XP_016860308.1:p.Val25306=
XM_017004820.1:c.71316C>T (TTN) XP_016860309.1:p.Val23772=
XM_017004821.1:c.71313C>T (TTN) XP_016860310.1:p.Val23771=
XM_017004822.1:c.68355C>T (TTN) XP_016860311.1:p.Val22785=
XM_017004823.1:c.49971C>T (TTN) XP_016860312.1:p.Val16657=
XM_024453094.1:c.71466C>T (TTN) XP_024308862.1:p.Val23822=
XM_024453095.1:c.71463C>T (TTN) XP_024308863.1:p.Val23821=
XM_024453096.1:c.70896C>T (TTN) XP_024308864.1:p.Val23632=
XM_024453097.1:c.68238C>T (TTN) XP_024308865.1:p.Val22746=
XM_024453098.1:c.68157C>T (TTN) XP_024308866.1:p.Val22719=
XM_024453099.1:c.49920C>T (TTN) XP_024308867.1:p.Val16640=
XM_024453100.1:c.39774C>T (TTN) XP_024308868.1:p.Val13258=