Canonical Allele Identifier: CA430245590

Linked Data

MyVariant Identifiers: chr2:g.179417384G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552657G>C , CM000664.2:g.178552657G>C GRCh38
NC_000002.11:g.179417384G>C , CM000664.1:g.179417384G>C GRCh37
NC_000002.10:g.179125630G>C NCBI36
NG_011618.3:g.283146C>G , LRG_391:g.283146C>G
NG_051363.1:g.34831G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82539C>G (TTN) ENSP00000343764.6:p.Gly27513=
ENST00000342175.11:c.63624C>G (TTN) ENSP00000340554.6:p.Gly21208=
ENST00000359218.10:c.63423C>G (TTN) ENSP00000352154.5:p.Gly21141=
ENST00000342175.10:c.63624C>G (TTN) ENSP00000340554.6:p.Gly21208=
ENST00000342992.10:c.82539C>G (TTN) ENSP00000343764.6:p.Gly27513=
ENST00000359218.9:c.63423C>G (TTN) ENSP00000352154.5:p.Gly21141=
ENST00000460472.6:c.63048C>G (TTN) ENSP00000434586.1:p.Gly21016=
ENST00000589042.5:c.90243C>G (TTN) MANE Select ENSP00000467141.1:p.Gly30081=
ENST00000591111.5:c.85320C>G (TTN) ENSP00000465570.1:p.Gly28440=
ENST00000615779.4:c.85320C>G (TTN) ENSP00000483597.1:p.Gly28440=
NM_001256850.1:c.85320C>G (TTN) NP_001243779.1:p.Gly28440=
NM_001267550.2:c.90243C>G (TTN) MANE Select NP_001254479.2:p.Gly30081=
NM_003319.4:c.63048C>G (TTN) NP_003310.4:p.Gly21016=
NM_133378.4:c.82539C>G (TTN) NP_596869.4:p.Gly27513=
NM_133432.3:c.63423C>G (TTN) NP_597676.3:p.Gly21141=
NM_133437.4:c.63624C>G (TTN) NP_597681.4:p.Gly21208=
NR_038271.1:n.447-18643G>C (TTN-AS1)
NR_038272.1:n.2043+10296G>C (TTN-AS1)
XM_011511729.1:c.89340C>G (TTN) XP_011510031.1:p.Gly29780=
XM_011511730.1:c.63234C>G (TTN) XP_011510032.1:p.Gly21078=
XM_011511731.1:c.63093C>G (TTN) XP_011510033.1:p.Gly21031=
XM_017004819.1:c.89136C>G (TTN) XP_016860308.1:p.Gly29712=
XM_017004820.1:c.84534C>G (TTN) XP_016860309.1:p.Gly28178=
XM_017004821.1:c.84531C>G (TTN) XP_016860310.1:p.Gly28177=
XM_017004822.1:c.81573C>G (TTN) XP_016860311.1:p.Gly27191=
XM_017004823.1:c.63189C>G (TTN) XP_016860312.1:p.Gly21063=
XM_024453094.1:c.84684C>G (TTN) XP_024308862.1:p.Gly28228=
XM_024453095.1:c.84681C>G (TTN) XP_024308863.1:p.Gly28227=
XM_024453096.1:c.84114C>G (TTN) XP_024308864.1:p.Gly28038=
XM_024453097.1:c.81456C>G (TTN) XP_024308865.1:p.Gly27152=
XM_024453098.1:c.81375C>G (TTN) XP_024308866.1:p.Gly27125=
XM_024453099.1:c.63138C>G (TTN) XP_024308867.1:p.Gly21046=
XM_024453100.1:c.52992C>G (TTN) XP_024308868.1:p.Gly17664=