Canonical Allele Identifier: CA430245380

Linked Data

MyVariant Identifiers: chr2:g.179416568A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551841A>C , CM000664.2:g.178551841A>C GRCh38
NC_000002.11:g.179416568A>C , CM000664.1:g.179416568A>C GRCh37
NC_000002.10:g.179124814A>C NCBI36
NG_011618.3:g.283962T>G , LRG_391:g.283962T>G
NG_051363.1:g.34015A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83355T>G (TTN) ENSP00000343764.6:p.Gly27785=
ENST00000342175.11:c.64440T>G (TTN) ENSP00000340554.6:p.Gly21480=
ENST00000359218.10:c.64239T>G (TTN) ENSP00000352154.5:p.Gly21413=
ENST00000342175.10:c.64440T>G (TTN) ENSP00000340554.6:p.Gly21480=
ENST00000342992.10:c.83355T>G (TTN) ENSP00000343764.6:p.Gly27785=
ENST00000359218.9:c.64239T>G (TTN) ENSP00000352154.5:p.Gly21413=
ENST00000460472.6:c.63864T>G (TTN) ENSP00000434586.1:p.Gly21288=
ENST00000589042.5:c.91059T>G (TTN) MANE Select ENSP00000467141.1:p.Gly30353=
ENST00000591111.5:c.86136T>G (TTN) ENSP00000465570.1:p.Gly28712=
ENST00000615779.4:c.86136T>G (TTN) ENSP00000483597.1:p.Gly28712=
NM_001256850.1:c.86136T>G (TTN) NP_001243779.1:p.Gly28712=
NM_001267550.2:c.91059T>G (TTN) MANE Select NP_001254479.2:p.Gly30353=
NM_003319.4:c.63864T>G (TTN) NP_003310.4:p.Gly21288=
NM_133378.4:c.83355T>G (TTN) NP_596869.4:p.Gly27785=
NM_133432.3:c.64239T>G (TTN) NP_597676.3:p.Gly21413=
NM_133437.4:c.64440T>G (TTN) NP_597681.4:p.Gly21480=
NR_038271.1:n.447-19459A>C (TTN-AS1)
NR_038272.1:n.2043+9480A>C (TTN-AS1)
XM_011511729.1:c.90156T>G (TTN) XP_011510031.1:p.Gly30052=
XM_011511730.1:c.64050T>G (TTN) XP_011510032.1:p.Gly21350=
XM_011511731.1:c.63909T>G (TTN) XP_011510033.1:p.Gly21303=
XM_017004819.1:c.89952T>G (TTN) XP_016860308.1:p.Gly29984=
XM_017004820.1:c.85350T>G (TTN) XP_016860309.1:p.Gly28450=
XM_017004821.1:c.85347T>G (TTN) XP_016860310.1:p.Gly28449=
XM_017004822.1:c.82389T>G (TTN) XP_016860311.1:p.Gly27463=
XM_017004823.1:c.64005T>G (TTN) XP_016860312.1:p.Gly21335=
XM_024453094.1:c.85500T>G (TTN) XP_024308862.1:p.Gly28500=
XM_024453095.1:c.85497T>G (TTN) XP_024308863.1:p.Gly28499=
XM_024453096.1:c.84930T>G (TTN) XP_024308864.1:p.Gly28310=
XM_024453097.1:c.82272T>G (TTN) XP_024308865.1:p.Gly27424=
XM_024453098.1:c.82191T>G (TTN) XP_024308866.1:p.Gly27397=
XM_024453099.1:c.63954T>G (TTN) XP_024308867.1:p.Gly21318=
XM_024453100.1:c.53808T>G (TTN) XP_024308868.1:p.Gly17936=