Canonical Allele Identifier: CA560271732
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1436079212
gnomAD v2: 5-69372480-A-G
gnomAD v3: 5-70076653-A-G
gnomAD v4: 5-70076653-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70076653A>G , CM000667.2:g.70076653A>G GRCh38
NC_000005.9:g.69372480A>G , CM000667.1:g.69372480A>G GRCh37
NC_000005.8:g.69408236A>G NCBI36
NG_008728.1:g.32131A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380743.9:c.*3+79A>G MANE Select ENSP00000370119.4:n.*3+79A>G
ENST00000380742.8:c.*3+79A>G ENSP00000370118.4:n.*3+79A>G
ENST00000380743.8:c.*3+79A>G ENSP00000370119.4:n.*3+79A>G
ENST00000505346.5:n.433A>G
ENST00000506734.5:c.*59-366A>G ENSP00000424799.1:n.*59-366A>G
ENST00000507458.2:c.142+79A>G
ENST00000511812.5:c.*82A>G ENSP00000424282.1:n.*82A>G
ENST00000514914.1:n.429+79A>G
ENST00000626847.2:c.835-366A>G ENSP00000486152.1:n.835-366A>G
NM_017411.3:c.*3+79A>G NP_059107.1:n.*3+79A>G
NM_022875.2:c.835-366A>G NP_075013.1:n.835-366A>G
NM_022876.2:c.*3+79A>G NP_075014.1:n.*3+79A>G
NM_022877.2:c.739-366A>G NP_075015.1:n.739-366A>G
XM_011543600.1:c.*3+79A>G XP_011541902.1:n.*3+79A>G
XM_011543601.1:c.634-366A>G XP_011541903.1:n.634-366A>G
XM_011543602.1:c.*3+79A>G XP_011541904.1:n.*3+79A>G
XM_011543603.1:c.538-366A>G XP_011541905.1:n.538-366A>G
XR_948432.1:n.1054+88649A>G
XM_011543600.2:c.*3+79A>G XP_011541902.1:n.*3+79A>G
XM_011543602.3:c.*3+79A>G XP_011541904.1:n.*3+79A>G
XM_011543603.3:c.538-366A>G XP_011541905.1:n.538-366A>G
NM_017411.4:c.*3+79A>G MANE Select NP_059107.1:n.*3+79A>G
NM_022875.3:c.835-366A>G NP_075013.1:n.835-366A>G