Canonical Allele Identifier: CA2674142370
Gene: SMN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70076686del , CM000667.2:g.70076686del GRCh38
NC_000005.9:g.69372513del , CM000667.1:g.69372513del GRCh37
NC_000005.8:g.69408269del NCBI36
NG_008728.1:g.32164del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380743.9:c.*3+112del MANE Select ENSP00000370119.4:n.*3+112del
ENST00000380742.8:c.*3+112del ENSP00000370118.4:n.*3+112del
ENST00000380743.8:c.*3+112del ENSP00000370119.4:n.*3+112del
ENST00000505346.5:n.466del
ENST00000506734.5:c.*59-333del ENSP00000424799.1:n.*59-333del
ENST00000507458.2:c.142+112del
ENST00000511812.5:c.*115del ENSP00000424282.1:n.*115del
ENST00000514914.1:n.429+112del
ENST00000626847.2:c.835-333del ENSP00000486152.1:n.835-333del
NM_017411.3:c.*3+112del NP_059107.1:n.*3+112del
NM_022875.2:c.835-333del NP_075013.1:n.835-333del
NM_022876.2:c.*3+112del NP_075014.1:n.*3+112del
NM_022877.2:c.739-333del NP_075015.1:n.739-333del
XM_011543600.1:c.*3+112del XP_011541902.1:n.*3+112del
XM_011543601.1:c.634-333del XP_011541903.1:n.634-333del
XM_011543602.1:c.*3+112del XP_011541904.1:n.*3+112del
XM_011543603.1:c.538-333del XP_011541905.1:n.538-333del
XR_948432.1:n.1054+88682del
XM_011543600.2:c.*3+112del XP_011541902.1:n.*3+112del
XM_011543602.3:c.*3+112del XP_011541904.1:n.*3+112del
XM_011543603.3:c.538-333del XP_011541905.1:n.538-333del
NM_017411.4:c.*3+112del MANE Select NP_059107.1:n.*3+112del
NM_022875.3:c.835-333del NP_075013.1:n.835-333del