Canonical Allele Identifier: CA430267866

Linked Data

MyVariant Identifiers: chr2:g.179457791A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593064A>G , CM000664.2:g.178593064A>G GRCh38
NC_000002.11:g.179457791A>G , CM000664.1:g.179457791A>G GRCh37
NC_000002.10:g.179166037A>G NCBI36
NG_011618.3:g.242739T>C , LRG_391:g.242739T>C
NG_051363.1:g.75238A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51351T>C (TTN) ENSP00000343764.6:p.Val17117=
ENST00000342175.11:c.32436T>C (TTN) ENSP00000340554.6:p.Val10812=
ENST00000359218.10:c.32235T>C (TTN) ENSP00000352154.5:p.Val10745=
ENST00000342175.10:c.32436T>C (TTN) ENSP00000340554.6:p.Val10812=
ENST00000342992.10:c.51351T>C (TTN) ENSP00000343764.6:p.Val17117=
ENST00000359218.9:c.32235T>C (TTN) ENSP00000352154.5:p.Val10745=
ENST00000460472.6:c.31860T>C (TTN) ENSP00000434586.1:p.Val10620=
ENST00000589042.5:c.59055T>C (TTN) MANE Select ENSP00000467141.1:p.Val19685=
ENST00000591111.5:c.54132T>C (TTN) ENSP00000465570.1:p.Val18044=
ENST00000615779.4:c.54132T>C (TTN) ENSP00000483597.1:p.Val18044=
NM_001256850.1:c.54132T>C (TTN) NP_001243779.1:p.Val18044=
NM_001267550.2:c.59055T>C (TTN) MANE Select NP_001254479.2:p.Val19685=
NM_003319.4:c.31860T>C (TTN) NP_003310.4:p.Val10620=
NM_133378.4:c.51351T>C (TTN) NP_596869.4:p.Val17117=
NM_133432.3:c.32235T>C (TTN) NP_597676.3:p.Val10745=
NM_133437.4:c.32436T>C (TTN) NP_597681.4:p.Val10812=
NR_038271.1:n.597-4532A>G (TTN-AS1)
NR_038272.1:n.3364+1750A>G (TTN-AS1)
XM_011511729.1:c.58152T>C (TTN) XP_011510031.1:p.Val19384=
XM_011511730.1:c.32046T>C (TTN) XP_011510032.1:p.Val10682=
XM_011511731.1:c.31905T>C (TTN) XP_011510033.1:p.Val10635=
XM_017004819.1:c.57948T>C (TTN) XP_016860308.1:p.Val19316=
XM_017004820.1:c.53346T>C (TTN) XP_016860309.1:p.Val17782=
XM_017004821.1:c.53343T>C (TTN) XP_016860310.1:p.Val17781=
XM_017004822.1:c.50385T>C (TTN) XP_016860311.1:p.Val16795=
XM_017004823.1:c.32001T>C (TTN) XP_016860312.1:p.Val10667=
XM_024453094.1:c.53496T>C (TTN) XP_024308862.1:p.Val17832=
XM_024453095.1:c.53493T>C (TTN) XP_024308863.1:p.Val17831=
XM_024453096.1:c.52926T>C (TTN) XP_024308864.1:p.Val17642=
XM_024453097.1:c.50268T>C (TTN) XP_024308865.1:p.Val16756=
XM_024453098.1:c.50187T>C (TTN) XP_024308866.1:p.Val16729=
XM_024453099.1:c.31950T>C (TTN) XP_024308867.1:p.Val10650=
XM_024453100.1:c.21804T>C (TTN) XP_024308868.1:p.Val7268=