Canonical Allele Identifier: CA1554044343

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076562C= , CM000667.2:g.70076562C=	GRCh38
NC_000005.9:g.69372389C= , CM000667.1:g.69372389C=	GRCh37
NC_000005.8:g.69408145C=	NCBI36
NG_008728.1:g.32040C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.876C= MANE Select	ENSP00000370119.4:p.Ser292=
ENST00000380741.8:c.876C=	ENSP00000370117.5:p.Ser292=
ENST00000380742.8:c.780C=	ENSP00000370118.4:p.Ser260=
ENST00000380743.8:c.876C=	ENSP00000370119.4:p.Ser292=
ENST00000505346.5:n.342C=
ENST00000506734.5:c.*59-457C=	ENSP00000424799.1:n.*59-457C=
ENST00000507458.2:c.130C=
ENST00000511812.5:c.675C=	ENSP00000424282.1:p.Ser225=
ENST00000514914.1:n.417C=
ENST00000614240.4:c.780C=	ENSP00000479279.1:p.Ser260=
ENST00000626847.2:c.835-457C=	ENSP00000486152.1:n.835-457C=
NM_017411.3:c.876C=	NP_059107.1:p.Ser292=
NM_022875.2:c.835-457C=	NP_075013.1:n.835-457C=
NM_022876.2:c.780C=	NP_075014.1:p.Ser260=
NM_022877.2:c.739-457C=	NP_075015.1:n.739-457C=
XM_011543600.1:c.675C=	XP_011541902.1:p.Ser225=
XM_011543601.1:c.634-457C=	XP_011541903.1:n.634-457C=
XM_011543602.1:c.579C=	XP_011541904.1:p.Ser193=
XM_011543603.1:c.538-457C=	XP_011541905.1:n.538-457C=
XR_948432.1:n.1054+88558C=
XM_011543600.2:c.675C=	XP_011541902.1:p.Ser225=
XM_011543602.3:c.579C=	XP_011541904.1:p.Ser193=
XM_011543603.3:c.538-457C=	XP_011541905.1:n.538-457C=
NM_017411.4:c.876C= MANE Select	NP_059107.1:p.Ser292=
NM_022875.3:c.835-457C=	NP_075013.1:n.835-457C=