Canonical Allele Identifier: CA430257102

Linked Data

MyVariant Identifiers: chr2:g.179438760A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574033A>G , CM000664.2:g.178574033A>G GRCh38
NC_000002.11:g.179438760A>G , CM000664.1:g.179438760A>G GRCh37
NC_000002.10:g.179147006A>G NCBI36
NG_011618.3:g.261770T>C , LRG_391:g.261770T>C
NG_051363.1:g.56207A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64395T>C (TTN) ENSP00000343764.6:p.Val21465=
ENST00000342175.11:c.45480T>C (TTN) ENSP00000340554.6:p.Val15160=
ENST00000359218.10:c.45279T>C (TTN) ENSP00000352154.5:p.Val15093=
ENST00000342175.10:c.45480T>C (TTN) ENSP00000340554.6:p.Val15160=
ENST00000342992.10:c.64395T>C (TTN) ENSP00000343764.6:p.Val21465=
ENST00000359218.9:c.45279T>C (TTN) ENSP00000352154.5:p.Val15093=
ENST00000460472.6:c.44904T>C (TTN) ENSP00000434586.1:p.Val14968=
ENST00000589042.5:c.72099T>C (TTN) MANE Select ENSP00000467141.1:p.Val24033=
ENST00000591111.5:c.67176T>C (TTN) ENSP00000465570.1:p.Val22392=
ENST00000615779.4:c.67176T>C (TTN) ENSP00000483597.1:p.Val22392=
NM_001256850.1:c.67176T>C (TTN) NP_001243779.1:p.Val22392=
NM_001267550.2:c.72099T>C (TTN) MANE Select NP_001254479.2:p.Val24033=
NM_003319.4:c.44904T>C (TTN) NP_003310.4:p.Val14968=
NM_133378.4:c.64395T>C (TTN) NP_596869.4:p.Val21465=
NM_133432.3:c.45279T>C (TTN) NP_597676.3:p.Val15093=
NM_133437.4:c.45480T>C (TTN) NP_597681.4:p.Val15160=
NR_038271.1:n.596+2584A>G (TTN-AS1)
NR_038272.1:n.2044-8539A>G (TTN-AS1)
XM_011511729.1:c.71196T>C (TTN) XP_011510031.1:p.Val23732=
XM_011511730.1:c.45090T>C (TTN) XP_011510032.1:p.Val15030=
XM_011511731.1:c.44949T>C (TTN) XP_011510033.1:p.Val14983=
XM_017004819.1:c.70992T>C (TTN) XP_016860308.1:p.Val23664=
XM_017004820.1:c.66390T>C (TTN) XP_016860309.1:p.Val22130=
XM_017004821.1:c.66387T>C (TTN) XP_016860310.1:p.Val22129=
XM_017004822.1:c.63429T>C (TTN) XP_016860311.1:p.Val21143=
XM_017004823.1:c.45045T>C (TTN) XP_016860312.1:p.Val15015=
XM_024453094.1:c.66540T>C (TTN) XP_024308862.1:p.Val22180=
XM_024453095.1:c.66537T>C (TTN) XP_024308863.1:p.Val22179=
XM_024453096.1:c.65970T>C (TTN) XP_024308864.1:p.Val21990=
XM_024453097.1:c.63312T>C (TTN) XP_024308865.1:p.Val21104=
XM_024453098.1:c.63231T>C (TTN) XP_024308866.1:p.Val21077=
XM_024453099.1:c.44994T>C (TTN) XP_024308867.1:p.Val14998=
XM_024453100.1:c.34848T>C (TTN) XP_024308868.1:p.Val11616=