Canonical Allele Identifier: CA430245390

Linked Data

MyVariant Identifiers: chr2:g.179416571A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551844A>G , CM000664.2:g.178551844A>G GRCh38
NC_000002.11:g.179416571A>G , CM000664.1:g.179416571A>G GRCh37
NC_000002.10:g.179124817A>G NCBI36
NG_011618.3:g.283959T>C , LRG_391:g.283959T>C
NG_051363.1:g.34018A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83352T>C (TTN) ENSP00000343764.6:p.Gly27784=
ENST00000342175.11:c.64437T>C (TTN) ENSP00000340554.6:p.Gly21479=
ENST00000359218.10:c.64236T>C (TTN) ENSP00000352154.5:p.Gly21412=
ENST00000342175.10:c.64437T>C (TTN) ENSP00000340554.6:p.Gly21479=
ENST00000342992.10:c.83352T>C (TTN) ENSP00000343764.6:p.Gly27784=
ENST00000359218.9:c.64236T>C (TTN) ENSP00000352154.5:p.Gly21412=
ENST00000460472.6:c.63861T>C (TTN) ENSP00000434586.1:p.Gly21287=
ENST00000589042.5:c.91056T>C (TTN) MANE Select ENSP00000467141.1:p.Gly30352=
ENST00000591111.5:c.86133T>C (TTN) ENSP00000465570.1:p.Gly28711=
ENST00000615779.4:c.86133T>C (TTN) ENSP00000483597.1:p.Gly28711=
NM_001256850.1:c.86133T>C (TTN) NP_001243779.1:p.Gly28711=
NM_001267550.2:c.91056T>C (TTN) MANE Select NP_001254479.2:p.Gly30352=
NM_003319.4:c.63861T>C (TTN) NP_003310.4:p.Gly21287=
NM_133378.4:c.83352T>C (TTN) NP_596869.4:p.Gly27784=
NM_133432.3:c.64236T>C (TTN) NP_597676.3:p.Gly21412=
NM_133437.4:c.64437T>C (TTN) NP_597681.4:p.Gly21479=
NR_038271.1:n.447-19456A>G (TTN-AS1)
NR_038272.1:n.2043+9483A>G (TTN-AS1)
XM_011511729.1:c.90153T>C (TTN) XP_011510031.1:p.Gly30051=
XM_011511730.1:c.64047T>C (TTN) XP_011510032.1:p.Gly21349=
XM_011511731.1:c.63906T>C (TTN) XP_011510033.1:p.Gly21302=
XM_017004819.1:c.89949T>C (TTN) XP_016860308.1:p.Gly29983=
XM_017004820.1:c.85347T>C (TTN) XP_016860309.1:p.Gly28449=
XM_017004821.1:c.85344T>C (TTN) XP_016860310.1:p.Gly28448=
XM_017004822.1:c.82386T>C (TTN) XP_016860311.1:p.Gly27462=
XM_017004823.1:c.64002T>C (TTN) XP_016860312.1:p.Gly21334=
XM_024453094.1:c.85497T>C (TTN) XP_024308862.1:p.Gly28499=
XM_024453095.1:c.85494T>C (TTN) XP_024308863.1:p.Gly28498=
XM_024453096.1:c.84927T>C (TTN) XP_024308864.1:p.Gly28309=
XM_024453097.1:c.82269T>C (TTN) XP_024308865.1:p.Gly27423=
XM_024453098.1:c.82188T>C (TTN) XP_024308866.1:p.Gly27396=
XM_024453099.1:c.63951T>C (TTN) XP_024308867.1:p.Gly21317=
XM_024453100.1:c.53805T>C (TTN) XP_024308868.1:p.Gly17935=