Canonical Allele Identifier: CA430242170

Linked Data

MyVariant Identifiers: chr2:g.179409208T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544481T>C , CM000664.2:g.178544481T>C GRCh38
NC_000002.11:g.179409208T>C , CM000664.1:g.179409208T>C GRCh37
NC_000002.10:g.179117454T>C NCBI36
NG_011618.3:g.291322A>G , LRG_391:g.291322A>G
NG_051363.1:g.26655T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88044A>G (TTN) ENSP00000343764.6:p.Pro29348=
ENST00000342175.11:c.69129A>G (TTN) ENSP00000340554.6:p.Pro23043=
ENST00000359218.10:c.68928A>G (TTN) ENSP00000352154.5:p.Pro22976=
ENST00000342175.10:c.69129A>G (TTN) ENSP00000340554.6:p.Pro23043=
ENST00000342992.10:c.88044A>G (TTN) ENSP00000343764.6:p.Pro29348=
ENST00000359218.9:c.68928A>G (TTN) ENSP00000352154.5:p.Pro22976=
ENST00000460472.6:c.68553A>G (TTN) ENSP00000434586.1:p.Pro22851=
ENST00000589042.5:c.95748A>G (TTN) MANE Select ENSP00000467141.1:p.Pro31916=
ENST00000591111.5:c.90825A>G (TTN) ENSP00000465570.1:p.Pro30275=
ENST00000615779.4:c.90825A>G (TTN) ENSP00000483597.1:p.Pro30275=
NM_001256850.1:c.90825A>G (TTN) NP_001243779.1:p.Pro30275=
NM_001267550.2:c.95748A>G (TTN) MANE Select NP_001254479.2:p.Pro31916=
NM_003319.4:c.68553A>G (TTN) NP_003310.4:p.Pro22851=
NM_133378.4:c.88044A>G (TTN) NP_596869.4:p.Pro29348=
NM_133432.3:c.68928A>G (TTN) NP_597676.3:p.Pro22976=
NM_133437.4:c.69129A>G (TTN) NP_597681.4:p.Pro23043=
NR_038271.1:n.446+20845T>C (TTN-AS1)
NR_038272.1:n.2043+2120T>C (TTN-AS1)
XM_011511729.1:c.94845A>G (TTN) XP_011510031.1:p.Pro31615=
XM_011511730.1:c.68739A>G (TTN) XP_011510032.1:p.Pro22913=
XM_011511731.1:c.68598A>G (TTN) XP_011510033.1:p.Pro22866=
XM_017004819.1:c.94641A>G (TTN) XP_016860308.1:p.Pro31547=
XM_017004820.1:c.90039A>G (TTN) XP_016860309.1:p.Pro30013=
XM_017004821.1:c.90036A>G (TTN) XP_016860310.1:p.Pro30012=
XM_017004822.1:c.87078A>G (TTN) XP_016860311.1:p.Pro29026=
XM_017004823.1:c.68694A>G (TTN) XP_016860312.1:p.Pro22898=
XM_024453094.1:c.90189A>G (TTN) XP_024308862.1:p.Pro30063=
XM_024453095.1:c.90186A>G (TTN) XP_024308863.1:p.Pro30062=
XM_024453096.1:c.89619A>G (TTN) XP_024308864.1:p.Pro29873=
XM_024453097.1:c.86961A>G (TTN) XP_024308865.1:p.Pro28987=
XM_024453098.1:c.86880A>G (TTN) XP_024308866.1:p.Pro28960=
XM_024453099.1:c.68643A>G (TTN) XP_024308867.1:p.Pro22881=
XM_024453100.1:c.58497A>G (TTN) XP_024308868.1:p.Pro19499=