Canonical Allele Identifier: CA430252731

Linked Data

MyVariant Identifiers: chr2:g.179432124T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567397T>C , CM000664.2:g.178567397T>C GRCh38
NC_000002.11:g.179432124T>C , CM000664.1:g.179432124T>C GRCh37
NC_000002.10:g.179140370T>C NCBI36
NG_011618.3:g.268406A>G , LRG_391:g.268406A>G
NG_051363.1:g.49571T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71031A>G (TTN) ENSP00000343764.6:p.Thr23677=
ENST00000342175.11:c.52116A>G (TTN) ENSP00000340554.6:p.Thr17372=
ENST00000359218.10:c.51915A>G (TTN) ENSP00000352154.5:p.Thr17305=
ENST00000342175.10:c.52116A>G (TTN) ENSP00000340554.6:p.Thr17372=
ENST00000342992.10:c.71031A>G (TTN) ENSP00000343764.6:p.Thr23677=
ENST00000359218.9:c.51915A>G (TTN) ENSP00000352154.5:p.Thr17305=
ENST00000460472.6:c.51540A>G (TTN) ENSP00000434586.1:p.Thr17180=
ENST00000589042.5:c.78735A>G (TTN) MANE Select ENSP00000467141.1:p.Thr26245=
ENST00000591111.5:c.73812A>G (TTN) ENSP00000465570.1:p.Thr24604=
ENST00000615779.4:c.73812A>G (TTN) ENSP00000483597.1:p.Thr24604=
NM_001256850.1:c.73812A>G (TTN) NP_001243779.1:p.Thr24604=
NM_001267550.2:c.78735A>G (TTN) MANE Select NP_001254479.2:p.Thr26245=
NM_003319.4:c.51540A>G (TTN) NP_003310.4:p.Thr17180=
NM_133378.4:c.71031A>G (TTN) NP_596869.4:p.Thr23677=
NM_133432.3:c.51915A>G (TTN) NP_597676.3:p.Thr17305=
NM_133437.4:c.52116A>G (TTN) NP_597681.4:p.Thr17372=
NR_038271.1:n.447-3903T>C (TTN-AS1)
NR_038272.1:n.2044-15175T>C (TTN-AS1)
XM_011511729.1:c.77832A>G (TTN) XP_011510031.1:p.Thr25944=
XM_011511730.1:c.51726A>G (TTN) XP_011510032.1:p.Thr17242=
XM_011511731.1:c.51585A>G (TTN) XP_011510033.1:p.Thr17195=
XM_017004819.1:c.77628A>G (TTN) XP_016860308.1:p.Thr25876=
XM_017004820.1:c.73026A>G (TTN) XP_016860309.1:p.Thr24342=
XM_017004821.1:c.73023A>G (TTN) XP_016860310.1:p.Thr24341=
XM_017004822.1:c.70065A>G (TTN) XP_016860311.1:p.Thr23355=
XM_017004823.1:c.51681A>G (TTN) XP_016860312.1:p.Thr17227=
XM_024453094.1:c.73176A>G (TTN) XP_024308862.1:p.Thr24392=
XM_024453095.1:c.73173A>G (TTN) XP_024308863.1:p.Thr24391=
XM_024453096.1:c.72606A>G (TTN) XP_024308864.1:p.Thr24202=
XM_024453097.1:c.69948A>G (TTN) XP_024308865.1:p.Thr23316=
XM_024453098.1:c.69867A>G (TTN) XP_024308866.1:p.Thr23289=
XM_024453099.1:c.51630A>G (TTN) XP_024308867.1:p.Thr17210=
XM_024453100.1:c.41484A>G (TTN) XP_024308868.1:p.Thr13828=