Canonical Allele Identifier: CA430254411

Linked Data

ClinVar Variation Id: 3223286
ClinVar RCV Id: RCV004508641
MyVariant Identifiers: chr2:g.179434605G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569878G>C , CM000664.2:g.178569878G>C GRCh38
NC_000002.11:g.179434605G>C , CM000664.1:g.179434605G>C GRCh37
NC_000002.10:g.179142851G>C NCBI36
NG_011618.3:g.265925C>G , LRG_391:g.265925C>G
NG_051363.1:g.52052G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.68550C>G (TTN) ENSP00000343764.6:p.Thr22850=
ENST00000342175.11:c.49635C>G (TTN) ENSP00000340554.6:p.Thr16545=
ENST00000359218.10:c.49434C>G (TTN) ENSP00000352154.5:p.Thr16478=
ENST00000342175.10:c.49635C>G (TTN) ENSP00000340554.6:p.Thr16545=
ENST00000342992.10:c.68550C>G (TTN) ENSP00000343764.6:p.Thr22850=
ENST00000359218.9:c.49434C>G (TTN) ENSP00000352154.5:p.Thr16478=
ENST00000460472.6:c.49059C>G (TTN) ENSP00000434586.1:p.Thr16353=
ENST00000589042.5:c.76254C>G (TTN) MANE Select ENSP00000467141.1:p.Thr25418=
ENST00000591111.5:c.71331C>G (TTN) ENSP00000465570.1:p.Thr23777=
ENST00000615779.4:c.71331C>G (TTN) ENSP00000483597.1:p.Thr23777=
NM_001256850.1:c.71331C>G (TTN) NP_001243779.1:p.Thr23777=
NM_001267550.2:c.76254C>G (TTN) MANE Select NP_001254479.2:p.Thr25418=
NM_003319.4:c.49059C>G (TTN) NP_003310.4:p.Thr16353=
NM_133378.4:c.68550C>G (TTN) NP_596869.4:p.Thr22850=
NM_133432.3:c.49434C>G (TTN) NP_597676.3:p.Thr16478=
NM_133437.4:c.49635C>G (TTN) NP_597681.4:p.Thr16545=
NR_038271.1:n.447-1422G>C (TTN-AS1)
NR_038272.1:n.2044-12694G>C (TTN-AS1)
XM_011511729.1:c.75351C>G (TTN) XP_011510031.1:p.Thr25117=
XM_011511730.1:c.49245C>G (TTN) XP_011510032.1:p.Thr16415=
XM_011511731.1:c.49104C>G (TTN) XP_011510033.1:p.Thr16368=
XM_017004819.1:c.75147C>G (TTN) XP_016860308.1:p.Thr25049=
XM_017004820.1:c.70545C>G (TTN) XP_016860309.1:p.Thr23515=
XM_017004821.1:c.70542C>G (TTN) XP_016860310.1:p.Thr23514=
XM_017004822.1:c.67584C>G (TTN) XP_016860311.1:p.Thr22528=
XM_017004823.1:c.49200C>G (TTN) XP_016860312.1:p.Thr16400=
XM_024453094.1:c.70695C>G (TTN) XP_024308862.1:p.Thr23565=
XM_024453095.1:c.70692C>G (TTN) XP_024308863.1:p.Thr23564=
XM_024453096.1:c.70125C>G (TTN) XP_024308864.1:p.Thr23375=
XM_024453097.1:c.67467C>G (TTN) XP_024308865.1:p.Thr22489=
XM_024453098.1:c.67386C>G (TTN) XP_024308866.1:p.Thr22462=
XM_024453099.1:c.49149C>G (TTN) XP_024308867.1:p.Thr16383=
XM_024453100.1:c.39003C>G (TTN) XP_024308868.1:p.Thr13001=