Canonical Allele Identifier: CA120719411
Gene: SMN2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs75030631

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049690C>G , CM000667.2:g.70049690C>G GRCh38
NC_000005.9:g.69345517C>G , CM000667.1:g.69345517C>G GRCh37
NC_000005.8:g.69381273C>G NCBI36
NG_008728.1:g.5168C>G

Transcript Alleles

HGVS Amino-acid change
NM_017411.3:c.5C>G VV NP_059107.1:p.Ala2Gly
NM_022875.2:c.5C>G VV NP_075013.1:p.Ala2Gly
NM_022876.2:c.5C>G VV NP_075014.1:p.Ala2Gly
NM_022877.2:c.5C>G VV NP_075015.1:p.Ala2Gly
XM_011543599.1:c.5C>G XP_011541901.1:p.Ala2Gly
XM_011543600.1:c.5C>G XP_011541902.1:p.Ala2Gly
XM_011543601.1:c.5C>G XP_011541903.1:p.Ala2Gly
XM_011543602.1:c.5C>G XP_011541904.1:p.Ala2Gly
XM_011543603.1:c.5C>G XP_011541905.1:p.Ala2Gly
XR_948432.1:n.1054+61686C>G
XM_011543600.2:c.5C>G XP_011541902.1:p.Ala2Gly
XM_011543602.3:c.5C>G XP_011541904.1:p.Ala2Gly
XM_011543603.3:c.5C>G XP_011541905.1:p.Ala2Gly
XM_017009787.1:c.5C>G XP_016865276.1:p.Ala2Gly
ENST00000380741.8:n.5C>G ENSP00000370117.5:p.Ala2Gly
ENST00000380742.8:c.5C>G ENSP00000370118.4:p.Ala2Gly
ENST00000380743.8:c.5C>G ENSP00000370119.4:p.Ala2Gly
ENST00000506734.5:c.5C>G ENSP00000424799.1:p.Ala2Gly
ENST00000511812.5:c.5C>G ENSP00000424282.1:p.Ala2Gly
ENST00000614240.4:n.5C>G ENSP00000479279.1:p.Ala2Gly
ENST00000626847.2:c.5C>G ENSP00000486152.1:p.Ala2Gly
ENST00000628696.2:n.5C>G ENSP00000486268.1:p.Ala2Gly