Canonical Allele Identifier: CA2674142241
Gene: SMN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70076459_70076474del , CM000667.2:g.70076459_70076474del GRCh38
NC_000005.9:g.69372286_69372301del , CM000667.1:g.69372286_69372301del GRCh37
NC_000005.8:g.69408042_69408057del NCBI36
NG_008728.1:g.31937_31952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380743.9:c.835-62_835-47del MANE Select ENSP00000370119.4:n.835-62_835-47del
ENST00000380741.8:c.835-62_835-47del ENSP00000370117.5:n.835-62_835-47del
ENST00000380742.8:c.739-62_739-47del ENSP00000370118.4:n.739-62_739-47del
ENST00000380743.8:c.835-62_835-47del ENSP00000370119.4:n.835-62_835-47del
ENST00000505346.5:n.301-62_301-47del
ENST00000506734.5:c.*59-560_*59-545del ENSP00000424799.1:n.*59-560_*59-545del
ENST00000507458.2:c.89-62_89-47del
ENST00000511812.5:c.634-62_634-47del ENSP00000424282.1:n.634-62_634-47del
ENST00000514914.1:n.376-62_376-47del
ENST00000614240.4:c.739-62_739-47del ENSP00000479279.1:n.739-62_739-47del
ENST00000626847.2:c.835-560_835-545del ENSP00000486152.1:n.835-560_835-545del
NM_017411.3:c.835-62_835-47del NP_059107.1:n.835-62_835-47del
NM_022875.2:c.835-560_835-545del NP_075013.1:n.835-560_835-545del
NM_022876.2:c.739-62_739-47del NP_075014.1:n.739-62_739-47del
NM_022877.2:c.739-560_739-545del NP_075015.1:n.739-560_739-545del
XM_011543600.1:c.634-62_634-47del XP_011541902.1:n.634-62_634-47del
XM_011543601.1:c.634-560_634-545del XP_011541903.1:n.634-560_634-545del
XM_011543602.1:c.538-62_538-47del XP_011541904.1:n.538-62_538-47del
XM_011543603.1:c.538-560_538-545del XP_011541905.1:n.538-560_538-545del
XR_948432.1:n.1054+88455_1054+88470del
XM_011543600.2:c.634-62_634-47del XP_011541902.1:n.634-62_634-47del
XM_011543602.3:c.538-62_538-47del XP_011541904.1:n.538-62_538-47del
XM_011543603.3:c.538-560_538-545del XP_011541905.1:n.538-560_538-545del
NM_017411.4:c.835-62_835-47del MANE Select NP_059107.1:n.835-62_835-47del
NM_022875.3:c.835-560_835-545del NP_075013.1:n.835-560_835-545del