Canonical Allele Identifier: CA1554044333

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076544A= , CM000667.2:g.70076544A=	GRCh38
NC_000005.9:g.69372371A= , CM000667.1:g.69372371A=	GRCh37
NC_000005.8:g.69408127A=	NCBI36
NG_008728.1:g.32022A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.858A= MANE Select	ENSP00000370119.4:p.Glu286=
ENST00000380741.8:c.858A=	ENSP00000370117.5:p.Glu286=
ENST00000380742.8:c.762A=	ENSP00000370118.4:p.Glu254=
ENST00000380743.8:c.858A=	ENSP00000370119.4:p.Glu286=
ENST00000505346.5:n.324A=
ENST00000506734.5:c.*59-475A=	ENSP00000424799.1:n.*59-475A=
ENST00000507458.2:c.112A=
ENST00000511812.5:c.657A=	ENSP00000424282.1:p.Glu219=
ENST00000514914.1:n.399A=
ENST00000614240.4:c.762A=	ENSP00000479279.1:p.Glu254=
ENST00000626847.2:c.835-475A=	ENSP00000486152.1:n.835-475A=
NM_017411.3:c.858A=	NP_059107.1:p.Glu286=
NM_022875.2:c.835-475A=	NP_075013.1:n.835-475A=
NM_022876.2:c.762A=	NP_075014.1:p.Glu254=
NM_022877.2:c.739-475A=	NP_075015.1:n.739-475A=
XM_011543600.1:c.657A=	XP_011541902.1:p.Glu219=
XM_011543601.1:c.634-475A=	XP_011541903.1:n.634-475A=
XM_011543602.1:c.561A=	XP_011541904.1:p.Glu187=
XM_011543603.1:c.538-475A=	XP_011541905.1:n.538-475A=
XR_948432.1:n.1054+88540A=
XM_011543600.2:c.657A=	XP_011541902.1:p.Glu219=
XM_011543602.3:c.561A=	XP_011541904.1:p.Glu187=
XM_011543603.3:c.538-475A=	XP_011541905.1:n.538-475A=
NM_017411.4:c.858A= MANE Select	NP_059107.1:p.Glu286=
NM_022875.3:c.835-475A=	NP_075013.1:n.835-475A=