Canonical Allele Identifier: CA430241456

Linked Data

MyVariant Identifiers: chr2:g.179408075G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543348G>A , CM000664.2:g.178543348G>A GRCh38
NC_000002.11:g.179408075G>A , CM000664.1:g.179408075G>A GRCh37
NC_000002.10:g.179116321G>A NCBI36
NG_011618.3:g.292455C>T , LRG_391:g.292455C>T
NG_051363.1:g.25522G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88921C>T (TTN) ENSP00000343764.6:p.Leu29641=
ENST00000342175.11:c.70006C>T (TTN) ENSP00000340554.6:p.Leu23336=
ENST00000359218.10:c.69805C>T (TTN) ENSP00000352154.5:p.Leu23269=
ENST00000342175.10:c.70006C>T (TTN) ENSP00000340554.6:p.Leu23336=
ENST00000342992.10:c.88921C>T (TTN) ENSP00000343764.6:p.Leu29641=
ENST00000359218.9:c.69805C>T (TTN) ENSP00000352154.5:p.Leu23269=
ENST00000460472.6:c.69430C>T (TTN) ENSP00000434586.1:p.Leu23144=
ENST00000589042.5:c.96625C>T (TTN) MANE Select ENSP00000467141.1:p.Leu32209=
ENST00000591111.5:c.91702C>T (TTN) ENSP00000465570.1:p.Leu30568=
ENST00000615779.4:c.91702C>T (TTN) ENSP00000483597.1:p.Leu30568=
NM_001256850.1:c.91702C>T (TTN) NP_001243779.1:p.Leu30568=
NM_001267550.2:c.96625C>T (TTN) MANE Select NP_001254479.2:p.Leu32209=
NM_003319.4:c.69430C>T (TTN) NP_003310.4:p.Leu23144=
NM_133378.4:c.88921C>T (TTN) NP_596869.4:p.Leu29641=
NM_133432.3:c.69805C>T (TTN) NP_597676.3:p.Leu23269=
NM_133437.4:c.70006C>T (TTN) NP_597681.4:p.Leu23336=
NR_038271.1:n.446+19712G>A (TTN-AS1)
NR_038272.1:n.2043+987G>A (TTN-AS1)
XM_011511729.1:c.95722C>T (TTN) XP_011510031.1:p.Leu31908=
XM_011511730.1:c.69616C>T (TTN) XP_011510032.1:p.Leu23206=
XM_011511731.1:c.69475C>T (TTN) XP_011510033.1:p.Leu23159=
XM_017004819.1:c.95518C>T (TTN) XP_016860308.1:p.Leu31840=
XM_017004820.1:c.90916C>T (TTN) XP_016860309.1:p.Leu30306=
XM_017004821.1:c.90913C>T (TTN) XP_016860310.1:p.Leu30305=
XM_017004822.1:c.87955C>T (TTN) XP_016860311.1:p.Leu29319=
XM_017004823.1:c.69571C>T (TTN) XP_016860312.1:p.Leu23191=
XM_024453094.1:c.91066C>T (TTN) XP_024308862.1:p.Leu30356=
XM_024453095.1:c.91063C>T (TTN) XP_024308863.1:p.Leu30355=
XM_024453096.1:c.90496C>T (TTN) XP_024308864.1:p.Leu30166=
XM_024453097.1:c.87838C>T (TTN) XP_024308865.1:p.Leu29280=
XM_024453098.1:c.87757C>T (TTN) XP_024308866.1:p.Leu29253=
XM_024453099.1:c.69520C>T (TTN) XP_024308867.1:p.Leu23174=
XM_024453100.1:c.59374C>T (TTN) XP_024308868.1:p.Leu19792=