Canonical Allele Identifier: CA430235215

Linked Data

MyVariant Identifiers: chr2:g.179395286A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530559A>T , CM000664.2:g.178530559A>T GRCh38
NC_000002.11:g.179395286A>T , CM000664.1:g.179395286A>T GRCh37
NC_000002.10:g.179103532A>T NCBI36
NG_011618.3:g.305244T>A , LRG_391:g.305244T>A
NG_051363.1:g.12733A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98352T>A (TTN) ENSP00000343764.6:p.Ser32784=
ENST00000342175.11:c.79437T>A (TTN) ENSP00000340554.6:p.Ser26479=
ENST00000359218.10:c.79236T>A (TTN) ENSP00000352154.5:p.Ser26412=
ENST00000342175.10:c.79437T>A (TTN) ENSP00000340554.6:p.Ser26479=
ENST00000342992.10:c.98352T>A (TTN) ENSP00000343764.6:p.Ser32784=
ENST00000359218.9:c.79236T>A (TTN) ENSP00000352154.5:p.Ser26412=
ENST00000460472.6:c.78861T>A (TTN) ENSP00000434586.1:p.Ser26287=
ENST00000589042.5:c.106056T>A (TTN) MANE Select ENSP00000467141.1:p.Ser35352=
ENST00000591111.5:c.101133T>A (TTN) ENSP00000465570.1:p.Ser33711=
ENST00000615779.4:c.101133T>A (TTN) ENSP00000483597.1:p.Ser33711=
NM_001256850.1:c.101133T>A (TTN) NP_001243779.1:p.Ser33711=
NM_001267550.2:c.106056T>A (TTN) MANE Select NP_001254479.2:p.Ser35352=
NM_003319.4:c.78861T>A (TTN) NP_003310.4:p.Ser26287=
NM_133378.4:c.98352T>A (TTN) NP_596869.4:p.Ser32784=
NM_133432.3:c.79236T>A (TTN) NP_597676.3:p.Ser26412=
NM_133437.4:c.79437T>A (TTN) NP_597681.4:p.Ser26479=
NR_038271.1:n.446+6923A>T (TTN-AS1)
NR_038272.1:n.220-5173A>T (TTN-AS1)
XM_011511729.1:c.105153T>A (TTN) XP_011510031.1:p.Ser35051=
XM_011511730.1:c.79047T>A (TTN) XP_011510032.1:p.Ser26349=
XM_011511731.1:c.78906T>A (TTN) XP_011510033.1:p.Ser26302=
XM_017004819.1:c.104949T>A (TTN) XP_016860308.1:p.Ser34983=
XM_017004820.1:c.100347T>A (TTN) XP_016860309.1:p.Ser33449=
XM_017004821.1:c.100344T>A (TTN) XP_016860310.1:p.Ser33448=
XM_017004822.1:c.97386T>A (TTN) XP_016860311.1:p.Ser32462=
XM_017004823.1:c.79002T>A (TTN) XP_016860312.1:p.Ser26334=
XM_024453094.1:c.100497T>A (TTN) XP_024308862.1:p.Ser33499=
XM_024453095.1:c.100494T>A (TTN) XP_024308863.1:p.Ser33498=
XM_024453096.1:c.99927T>A (TTN) XP_024308864.1:p.Ser33309=
XM_024453097.1:c.97269T>A (TTN) XP_024308865.1:p.Ser32423=
XM_024453098.1:c.97188T>A (TTN) XP_024308866.1:p.Ser32396=
XM_024453099.1:c.78951T>A (TTN) XP_024308867.1:p.Ser26317=
XM_024453100.1:c.68805T>A (TTN) XP_024308868.1:p.Ser22935=