Canonical Allele Identifier: CA1554044378
Gene: SMN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70076674G= , CM000667.2:g.70076674G= GRCh38
NC_000005.9:g.69372501G= , CM000667.1:g.69372501G= GRCh37
NC_000005.8:g.69408257G= NCBI36
NG_008728.1:g.32152G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380743.9:c.*3+100G= MANE Select ENSP00000370119.4:n.*3+100G=
ENST00000380742.8:c.*3+100G= ENSP00000370118.4:n.*3+100G=
ENST00000380743.8:c.*3+100G= ENSP00000370119.4:n.*3+100G=
ENST00000505346.5:n.454G=
ENST00000506734.5:c.*59-345G= ENSP00000424799.1:n.*59-345G=
ENST00000507458.2:c.142+100G=
ENST00000511812.5:c.*103G= ENSP00000424282.1:n.*103G=
ENST00000514914.1:n.429+100G=
ENST00000626847.2:c.835-345G= ENSP00000486152.1:n.835-345G=
NM_017411.3:c.*3+100G= NP_059107.1:n.*3+100G=
NM_022875.2:c.835-345G= NP_075013.1:n.835-345G=
NM_022876.2:c.*3+100G= NP_075014.1:n.*3+100G=
NM_022877.2:c.739-345G= NP_075015.1:n.739-345G=
XM_011543600.1:c.*3+100G= XP_011541902.1:n.*3+100G=
XM_011543601.1:c.634-345G= XP_011541903.1:n.634-345G=
XM_011543602.1:c.*3+100G= XP_011541904.1:n.*3+100G=
XM_011543603.1:c.538-345G= XP_011541905.1:n.538-345G=
XR_948432.1:n.1054+88670G=
XM_011543600.2:c.*3+100G= XP_011541902.1:n.*3+100G=
XM_011543602.3:c.*3+100G= XP_011541904.1:n.*3+100G=
XM_011543603.3:c.538-345G= XP_011541905.1:n.538-345G=
NM_017411.4:c.*3+100G= MANE Select NP_059107.1:n.*3+100G=
NM_022875.3:c.835-345G= NP_075013.1:n.835-345G=