Canonical Allele Identifier: CA10587482
Gene: TTN HGNC NCBI
TTN-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263509
ClinVar RCV Id: RCV000245208 RCV001594391
dbSNP Id: rs886038831
MyVariant Identifiers: chr2:g.179444121C>G (hg19) chr2:g.178579394C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579394C>G , CM000664.2:g.178579394C>G GRCh38
NC_000002.11:g.179444121C>G , CM000664.1:g.179444121C>G GRCh37
NC_000002.10:g.179152367C>G NCBI36
NG_011618.3:g.256409G>C , LRG_391:g.256409G>C
NG_051363.1:g.61568C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59933-1G>C (TTN) ENSP00000343764.6:n.59933-1G>C
ENST00000342175.11:c.41018-1G>C (TTN) ENSP00000340554.6:n.41018-1G>C
ENST00000359218.10:c.40817-1G>C (TTN) ENSP00000352154.5:n.40817-1G>C
ENST00000342175.10:c.41018-1G>C (TTN) ENSP00000340554.6:n.41018-1G>C
ENST00000342992.10:c.59933-1G>C (TTN) ENSP00000343764.6:n.59933-1G>C
ENST00000359218.9:c.40817-1G>C (TTN) ENSP00000352154.5:n.40817-1G>C
ENST00000460472.6:c.40442-1G>C (TTN) ENSP00000434586.1:n.40442-1G>C
ENST00000589042.5:c.67637-1G>C (TTN) MANE Select ENSP00000467141.1:n.67637-1G>C
ENST00000591111.5:c.62714-1G>C (TTN) ENSP00000465570.1:n.62714-1G>C
ENST00000615779.4:c.62714-1G>C (TTN) ENSP00000483597.1:n.62714-1G>C
NM_001256850.1:c.62714-1G>C (TTN) NP_001243779.1:n.62714-1G>C
NM_001267550.2:c.67637-1G>C (TTN) MANE Select NP_001254479.2:n.67637-1G>C
NM_003319.4:c.40442-1G>C (TTN) NP_003310.4:n.40442-1G>C
NM_133378.4:c.59933-1G>C (TTN) NP_596869.4:n.59933-1G>C
NM_133432.3:c.40817-1G>C (TTN) NP_597676.3:n.40817-1G>C
NM_133437.4:c.41018-1G>C (TTN) NP_597681.4:n.41018-1G>C
NR_038271.1:n.596+7945C>G (TTN-AS1)
NR_038272.1:n.2044-3178C>G (TTN-AS1)
XM_011511729.1:c.66734-1G>C (TTN) XP_011510031.1:n.66734-1G>C
XM_011511730.1:c.40628-1G>C (TTN) XP_011510032.1:n.40628-1G>C
XM_011511731.1:c.40487-1G>C (TTN) XP_011510033.1:n.40487-1G>C
XM_017004819.1:c.66530-1G>C (TTN) XP_016860308.1:n.66530-1G>C
XM_017004820.1:c.61928-1G>C (TTN) XP_016860309.1:n.61928-1G>C
XM_017004821.1:c.61925-1G>C (TTN) XP_016860310.1:n.61925-1G>C
XM_017004822.1:c.58967-1G>C (TTN) XP_016860311.1:n.58967-1G>C
XM_017004823.1:c.40583-1G>C (TTN) XP_016860312.1:n.40583-1G>C
XM_024453094.1:c.62078-1G>C (TTN) XP_024308862.1:n.62078-1G>C
XM_024453095.1:c.62075-1G>C (TTN) XP_024308863.1:n.62075-1G>C
XM_024453096.1:c.61508-1G>C (TTN) XP_024308864.1:n.61508-1G>C
XM_024453097.1:c.58850-1G>C (TTN) XP_024308865.1:n.58850-1G>C
XM_024453098.1:c.58769-1G>C (TTN) XP_024308866.1:n.58769-1G>C
XM_024453099.1:c.40532-1G>C (TTN) XP_024308867.1:n.40532-1G>C
XM_024453100.1:c.30386-1G>C (TTN) XP_024308868.1:n.30386-1G>C
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