Canonical Allele Identifier: CA430242166

Linked Data

MyVariant Identifiers: chr2:g.179409207T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544480T>G , CM000664.2:g.178544480T>G GRCh38
NC_000002.11:g.179409207T>G , CM000664.1:g.179409207T>G GRCh37
NC_000002.10:g.179117453T>G NCBI36
NG_011618.3:g.291323A>C , LRG_391:g.291323A>C
NG_051363.1:g.26654T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88045A>C (TTN) ENSP00000343764.6:p.Arg29349=
ENST00000342175.11:c.69130A>C (TTN) ENSP00000340554.6:p.Arg23044=
ENST00000359218.10:c.68929A>C (TTN) ENSP00000352154.5:p.Arg22977=
ENST00000342175.10:c.69130A>C (TTN) ENSP00000340554.6:p.Arg23044=
ENST00000342992.10:c.88045A>C (TTN) ENSP00000343764.6:p.Arg29349=
ENST00000359218.9:c.68929A>C (TTN) ENSP00000352154.5:p.Arg22977=
ENST00000460472.6:c.68554A>C (TTN) ENSP00000434586.1:p.Arg22852=
ENST00000589042.5:c.95749A>C (TTN) MANE Select ENSP00000467141.1:p.Arg31917=
ENST00000591111.5:c.90826A>C (TTN) ENSP00000465570.1:p.Arg30276=
ENST00000615779.4:c.90826A>C (TTN) ENSP00000483597.1:p.Arg30276=
NM_001256850.1:c.90826A>C (TTN) NP_001243779.1:p.Arg30276=
NM_001267550.2:c.95749A>C (TTN) MANE Select NP_001254479.2:p.Arg31917=
NM_003319.4:c.68554A>C (TTN) NP_003310.4:p.Arg22852=
NM_133378.4:c.88045A>C (TTN) NP_596869.4:p.Arg29349=
NM_133432.3:c.68929A>C (TTN) NP_597676.3:p.Arg22977=
NM_133437.4:c.69130A>C (TTN) NP_597681.4:p.Arg23044=
NR_038271.1:n.446+20844T>G (TTN-AS1)
NR_038272.1:n.2043+2119T>G (TTN-AS1)
XM_011511729.1:c.94846A>C (TTN) XP_011510031.1:p.Arg31616=
XM_011511730.1:c.68740A>C (TTN) XP_011510032.1:p.Arg22914=
XM_011511731.1:c.68599A>C (TTN) XP_011510033.1:p.Arg22867=
XM_017004819.1:c.94642A>C (TTN) XP_016860308.1:p.Arg31548=
XM_017004820.1:c.90040A>C (TTN) XP_016860309.1:p.Arg30014=
XM_017004821.1:c.90037A>C (TTN) XP_016860310.1:p.Arg30013=
XM_017004822.1:c.87079A>C (TTN) XP_016860311.1:p.Arg29027=
XM_017004823.1:c.68695A>C (TTN) XP_016860312.1:p.Arg22899=
XM_024453094.1:c.90190A>C (TTN) XP_024308862.1:p.Arg30064=
XM_024453095.1:c.90187A>C (TTN) XP_024308863.1:p.Arg30063=
XM_024453096.1:c.89620A>C (TTN) XP_024308864.1:p.Arg29874=
XM_024453097.1:c.86962A>C (TTN) XP_024308865.1:p.Arg28988=
XM_024453098.1:c.86881A>C (TTN) XP_024308866.1:p.Arg28961=
XM_024453099.1:c.68644A>C (TTN) XP_024308867.1:p.Arg22882=
XM_024453100.1:c.58498A>C (TTN) XP_024308868.1:p.Arg19500=