Canonical Allele Identifier: CA360087005
Gene: SMN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.69372372G>A (hg19) chr5:g.70076545G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70076545G>A , CM000667.2:g.70076545G>A GRCh38
NC_000005.9:g.69372372G>A , CM000667.1:g.69372372G>A GRCh37
NC_000005.8:g.69408128G>A NCBI36
NG_008728.1:g.32023G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380743.9:c.859G>A MANE Select ENSP00000370119.4:p.Gly287Arg
ENST00000380741.8:c.859G>A ENSP00000370117.5:p.Gly287Arg
ENST00000380742.8:c.763G>A ENSP00000370118.4:p.Gly255Arg
ENST00000380743.8:c.859G>A ENSP00000370119.4:p.Gly287Arg
ENST00000505346.5:n.325G>A
ENST00000506734.5:c.*59-474G>A ENSP00000424799.1:n.*59-474G>A
ENST00000507458.2:c.113G>A
ENST00000511812.5:c.658G>A ENSP00000424282.1:p.Gly220Arg
ENST00000514914.1:n.400G>A
ENST00000614240.4:c.763G>A ENSP00000479279.1:p.Gly255Arg
ENST00000626847.2:c.835-474G>A ENSP00000486152.1:n.835-474G>A
NM_017411.3:c.859G>A NP_059107.1:p.Gly287Arg
NM_022875.2:c.835-474G>A NP_075013.1:n.835-474G>A
NM_022876.2:c.763G>A NP_075014.1:p.Gly255Arg
NM_022877.2:c.739-474G>A NP_075015.1:n.739-474G>A
XM_011543600.1:c.658G>A XP_011541902.1:p.Gly220Arg
XM_011543601.1:c.634-474G>A XP_011541903.1:n.634-474G>A
XM_011543602.1:c.562G>A XP_011541904.1:p.Gly188Arg
XM_011543603.1:c.538-474G>A XP_011541905.1:n.538-474G>A
XR_948432.1:n.1054+88541G>A
XM_011543600.2:c.658G>A XP_011541902.1:p.Gly220Arg
XM_011543602.3:c.562G>A XP_011541904.1:p.Gly188Arg
XM_011543603.3:c.538-474G>A XP_011541905.1:n.538-474G>A
NM_017411.4:c.859G>A MANE Select NP_059107.1:p.Gly287Arg
NM_022875.3:c.835-474G>A NP_075013.1:n.835-474G>A
Search 100 bp 5'
Search 100 bp 3'