Canonical Allele Identifier: CA120719601
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs564381826
gnomAD v2: 5-69372479-C-T
gnomAD v3: 5-70076652-C-T
gnomAD v4: 5-70076652-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70076652C>T , CM000667.2:g.70076652C>T GRCh38
NC_000005.9:g.69372479C>T , CM000667.1:g.69372479C>T GRCh37
NC_000005.8:g.69408235C>T NCBI36
NG_008728.1:g.32130C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380743.9:c.*3+78C>T MANE Select ENSP00000370119.4:n.*3+78C>T
ENST00000380742.8:c.*3+78C>T ENSP00000370118.4:n.*3+78C>T
ENST00000380743.8:c.*3+78C>T ENSP00000370119.4:n.*3+78C>T
ENST00000505346.5:n.432C>T
ENST00000506734.5:c.*59-367C>T ENSP00000424799.1:n.*59-367C>T
ENST00000507458.2:c.142+78C>T
ENST00000511812.5:c.*81C>T ENSP00000424282.1:n.*81C>T
ENST00000514914.1:n.429+78C>T
ENST00000626847.2:c.835-367C>T ENSP00000486152.1:n.835-367C>T
NM_017411.3:c.*3+78C>T NP_059107.1:n.*3+78C>T
NM_022875.2:c.835-367C>T NP_075013.1:n.835-367C>T
NM_022876.2:c.*3+78C>T NP_075014.1:n.*3+78C>T
NM_022877.2:c.739-367C>T NP_075015.1:n.739-367C>T
XM_011543600.1:c.*3+78C>T XP_011541902.1:n.*3+78C>T
XM_011543601.1:c.634-367C>T XP_011541903.1:n.634-367C>T
XM_011543602.1:c.*3+78C>T XP_011541904.1:n.*3+78C>T
XM_011543603.1:c.538-367C>T XP_011541905.1:n.538-367C>T
XR_948432.1:n.1054+88648C>T
XM_011543600.2:c.*3+78C>T XP_011541902.1:n.*3+78C>T
XM_011543602.3:c.*3+78C>T XP_011541904.1:n.*3+78C>T
XM_011543603.3:c.538-367C>T XP_011541905.1:n.538-367C>T
NM_017411.4:c.*3+78C>T MANE Select NP_059107.1:n.*3+78C>T
NM_022875.3:c.835-367C>T NP_075013.1:n.835-367C>T