Canonical Allele Identifier: CA430242348

Linked Data

MyVariant Identifiers: chr2:g.179411352G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546625G>A , CM000664.2:g.178546625G>A GRCh38
NC_000002.11:g.179411352G>A , CM000664.1:g.179411352G>A GRCh37
NC_000002.10:g.179119598G>A NCBI36
NG_011618.3:g.289178C>T , LRG_391:g.289178C>T
NG_051363.1:g.28799G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87099C>T (TTN) ENSP00000343764.6:p.Gly29033=
ENST00000342175.11:c.68184C>T (TTN) ENSP00000340554.6:p.Gly22728=
ENST00000359218.10:c.67983C>T (TTN) ENSP00000352154.5:p.Gly22661=
ENST00000342175.10:c.68184C>T (TTN) ENSP00000340554.6:p.Gly22728=
ENST00000342992.10:c.87099C>T (TTN) ENSP00000343764.6:p.Gly29033=
ENST00000359218.9:c.67983C>T (TTN) ENSP00000352154.5:p.Gly22661=
ENST00000460472.6:c.67608C>T (TTN) ENSP00000434586.1:p.Gly22536=
ENST00000589042.5:c.94803C>T (TTN) MANE Select ENSP00000467141.1:p.Gly31601=
ENST00000591111.5:c.89880C>T (TTN) ENSP00000465570.1:p.Gly29960=
ENST00000615779.4:c.89880C>T (TTN) ENSP00000483597.1:p.Gly29960=
NM_001256850.1:c.89880C>T (TTN) NP_001243779.1:p.Gly29960=
NM_001267550.2:c.94803C>T (TTN) MANE Select NP_001254479.2:p.Gly31601=
NM_003319.4:c.67608C>T (TTN) NP_003310.4:p.Gly22536=
NM_133378.4:c.87099C>T (TTN) NP_596869.4:p.Gly29033=
NM_133432.3:c.67983C>T (TTN) NP_597676.3:p.Gly22661=
NM_133437.4:c.68184C>T (TTN) NP_597681.4:p.Gly22728=
NR_038271.1:n.446+22989G>A (TTN-AS1)
NR_038272.1:n.2043+4264G>A (TTN-AS1)
XM_011511729.1:c.93900C>T (TTN) XP_011510031.1:p.Gly31300=
XM_011511730.1:c.67794C>T (TTN) XP_011510032.1:p.Gly22598=
XM_011511731.1:c.67653C>T (TTN) XP_011510033.1:p.Gly22551=
XM_017004819.1:c.93696C>T (TTN) XP_016860308.1:p.Gly31232=
XM_017004820.1:c.89094C>T (TTN) XP_016860309.1:p.Gly29698=
XM_017004821.1:c.89091C>T (TTN) XP_016860310.1:p.Gly29697=
XM_017004822.1:c.86133C>T (TTN) XP_016860311.1:p.Gly28711=
XM_017004823.1:c.67749C>T (TTN) XP_016860312.1:p.Gly22583=
XM_024453094.1:c.89244C>T (TTN) XP_024308862.1:p.Gly29748=
XM_024453095.1:c.89241C>T (TTN) XP_024308863.1:p.Gly29747=
XM_024453096.1:c.88674C>T (TTN) XP_024308864.1:p.Gly29558=
XM_024453097.1:c.86016C>T (TTN) XP_024308865.1:p.Gly28672=
XM_024453098.1:c.85935C>T (TTN) XP_024308866.1:p.Gly28645=
XM_024453099.1:c.67698C>T (TTN) XP_024308867.1:p.Gly22566=
XM_024453100.1:c.57552C>T (TTN) XP_024308868.1:p.Gly19184=