Canonical Allele Identifier: CA430242235

Linked Data

MyVariant Identifiers: chr2:g.179411033G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546306G>A , CM000664.2:g.178546306G>A GRCh38
NC_000002.11:g.179411033G>A , CM000664.1:g.179411033G>A GRCh37
NC_000002.10:g.179119279G>A NCBI36
NG_011618.3:g.289497C>T , LRG_391:g.289497C>T
NG_051363.1:g.28480G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87321C>T (TTN) ENSP00000343764.6:p.Ile29107=
ENST00000342175.11:c.68406C>T (TTN) ENSP00000340554.6:p.Ile22802=
ENST00000359218.10:c.68205C>T (TTN) ENSP00000352154.5:p.Ile22735=
ENST00000342175.10:c.68406C>T (TTN) ENSP00000340554.6:p.Ile22802=
ENST00000342992.10:c.87321C>T (TTN) ENSP00000343764.6:p.Ile29107=
ENST00000359218.9:c.68205C>T (TTN) ENSP00000352154.5:p.Ile22735=
ENST00000460472.6:c.67830C>T (TTN) ENSP00000434586.1:p.Ile22610=
ENST00000589042.5:c.95025C>T (TTN) MANE Select ENSP00000467141.1:p.Ile31675=
ENST00000591111.5:c.90102C>T (TTN) ENSP00000465570.1:p.Ile30034=
ENST00000615779.4:c.90102C>T (TTN) ENSP00000483597.1:p.Ile30034=
NM_001256850.1:c.90102C>T (TTN) NP_001243779.1:p.Ile30034=
NM_001267550.2:c.95025C>T (TTN) MANE Select NP_001254479.2:p.Ile31675=
NM_003319.4:c.67830C>T (TTN) NP_003310.4:p.Ile22610=
NM_133378.4:c.87321C>T (TTN) NP_596869.4:p.Ile29107=
NM_133432.3:c.68205C>T (TTN) NP_597676.3:p.Ile22735=
NM_133437.4:c.68406C>T (TTN) NP_597681.4:p.Ile22802=
NR_038271.1:n.446+22670G>A (TTN-AS1)
NR_038272.1:n.2043+3945G>A (TTN-AS1)
XM_011511729.1:c.94122C>T (TTN) XP_011510031.1:p.Ile31374=
XM_011511730.1:c.68016C>T (TTN) XP_011510032.1:p.Ile22672=
XM_011511731.1:c.67875C>T (TTN) XP_011510033.1:p.Ile22625=
XM_017004819.1:c.93918C>T (TTN) XP_016860308.1:p.Ile31306=
XM_017004820.1:c.89316C>T (TTN) XP_016860309.1:p.Ile29772=
XM_017004821.1:c.89313C>T (TTN) XP_016860310.1:p.Ile29771=
XM_017004822.1:c.86355C>T (TTN) XP_016860311.1:p.Ile28785=
XM_017004823.1:c.67971C>T (TTN) XP_016860312.1:p.Ile22657=
XM_024453094.1:c.89466C>T (TTN) XP_024308862.1:p.Ile29822=
XM_024453095.1:c.89463C>T (TTN) XP_024308863.1:p.Ile29821=
XM_024453096.1:c.88896C>T (TTN) XP_024308864.1:p.Ile29632=
XM_024453097.1:c.86238C>T (TTN) XP_024308865.1:p.Ile28746=
XM_024453098.1:c.86157C>T (TTN) XP_024308866.1:p.Ile28719=
XM_024453099.1:c.67920C>T (TTN) XP_024308867.1:p.Ile22640=
XM_024453100.1:c.57774C>T (TTN) XP_024308868.1:p.Ile19258=