Canonical Allele Identifier: CA1554044385

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076706A= , CM000667.2:g.70076706A=	GRCh38
NC_000005.9:g.69372533A= , CM000667.1:g.69372533A=	GRCh37
NC_000005.8:g.69408289A=	NCBI36
NG_008728.1:g.32184A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+132A= MANE Select	ENSP00000370119.4:n.*3+132A=
ENST00000380742.8:c.*3+132A=	ENSP00000370118.4:n.*3+132A=
ENST00000380743.8:c.*3+132A=	ENSP00000370119.4:n.*3+132A=
ENST00000505346.5:n.486A=
ENST00000506734.5:c.*59-313A=	ENSP00000424799.1:n.*59-313A=
ENST00000507458.2:c.142+132A=
ENST00000511812.5:c.*135A=	ENSP00000424282.1:n.*135A=
ENST00000514914.1:n.429+132A=
ENST00000626847.2:c.835-313A=	ENSP00000486152.1:n.835-313A=
NM_017411.3:c.*3+132A=	NP_059107.1:n.*3+132A=
NM_022875.2:c.835-313A=	NP_075013.1:n.835-313A=
NM_022876.2:c.*3+132A=	NP_075014.1:n.*3+132A=
NM_022877.2:c.739-313A=	NP_075015.1:n.739-313A=
XM_011543600.1:c.*3+132A=	XP_011541902.1:n.*3+132A=
XM_011543601.1:c.634-313A=	XP_011541903.1:n.634-313A=
XM_011543602.1:c.*3+132A=	XP_011541904.1:n.*3+132A=
XM_011543603.1:c.538-313A=	XP_011541905.1:n.538-313A=
XR_948432.1:n.1054+88702A=
XM_011543600.2:c.*3+132A=	XP_011541902.1:n.*3+132A=
XM_011543602.3:c.*3+132A=	XP_011541904.1:n.*3+132A=
XM_011543603.3:c.538-313A=	XP_011541905.1:n.538-313A=
NM_017411.4:c.*3+132A= MANE Select	NP_059107.1:n.*3+132A=
NM_022875.3:c.835-313A=	NP_075013.1:n.835-313A=