Canonical Allele Identifier: CA430254894

Linked Data

MyVariant Identifiers: chr2:g.179435268C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570541C>G , CM000664.2:g.178570541C>G GRCh38
NC_000002.11:g.179435268C>G , CM000664.1:g.179435268C>G GRCh37
NC_000002.10:g.179143514C>G NCBI36
NG_011618.3:g.265262G>C , LRG_391:g.265262G>C
NG_051363.1:g.52715C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67887G>C (TTN) ENSP00000343764.6:p.Val22629=
ENST00000342175.11:c.48972G>C (TTN) ENSP00000340554.6:p.Val16324=
ENST00000359218.10:c.48771G>C (TTN) ENSP00000352154.5:p.Val16257=
ENST00000342175.10:c.48972G>C (TTN) ENSP00000340554.6:p.Val16324=
ENST00000342992.10:c.67887G>C (TTN) ENSP00000343764.6:p.Val22629=
ENST00000359218.9:c.48771G>C (TTN) ENSP00000352154.5:p.Val16257=
ENST00000460472.6:c.48396G>C (TTN) ENSP00000434586.1:p.Val16132=
ENST00000589042.5:c.75591G>C (TTN) MANE Select ENSP00000467141.1:p.Val25197=
ENST00000591111.5:c.70668G>C (TTN) ENSP00000465570.1:p.Val23556=
ENST00000615779.4:c.70668G>C (TTN) ENSP00000483597.1:p.Val23556=
NM_001256850.1:c.70668G>C (TTN) NP_001243779.1:p.Val23556=
NM_001267550.2:c.75591G>C (TTN) MANE Select NP_001254479.2:p.Val25197=
NM_003319.4:c.48396G>C (TTN) NP_003310.4:p.Val16132=
NM_133378.4:c.67887G>C (TTN) NP_596869.4:p.Val22629=
NM_133432.3:c.48771G>C (TTN) NP_597676.3:p.Val16257=
NM_133437.4:c.48972G>C (TTN) NP_597681.4:p.Val16324=
NR_038271.1:n.447-759C>G (TTN-AS1)
NR_038272.1:n.2044-12031C>G (TTN-AS1)
XM_011511729.1:c.74688G>C (TTN) XP_011510031.1:p.Val24896=
XM_011511730.1:c.48582G>C (TTN) XP_011510032.1:p.Val16194=
XM_011511731.1:c.48441G>C (TTN) XP_011510033.1:p.Val16147=
XM_017004819.1:c.74484G>C (TTN) XP_016860308.1:p.Val24828=
XM_017004820.1:c.69882G>C (TTN) XP_016860309.1:p.Val23294=
XM_017004821.1:c.69879G>C (TTN) XP_016860310.1:p.Val23293=
XM_017004822.1:c.66921G>C (TTN) XP_016860311.1:p.Val22307=
XM_017004823.1:c.48537G>C (TTN) XP_016860312.1:p.Val16179=
XM_024453094.1:c.70032G>C (TTN) XP_024308862.1:p.Val23344=
XM_024453095.1:c.70029G>C (TTN) XP_024308863.1:p.Val23343=
XM_024453096.1:c.69462G>C (TTN) XP_024308864.1:p.Val23154=
XM_024453097.1:c.66804G>C (TTN) XP_024308865.1:p.Val22268=
XM_024453098.1:c.66723G>C (TTN) XP_024308866.1:p.Val22241=
XM_024453099.1:c.48486G>C (TTN) XP_024308867.1:p.Val16162=
XM_024453100.1:c.38340G>C (TTN) XP_024308868.1:p.Val12780=