Canonical Allele Identifier: CA1554044328

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076526T= , CM000667.2:g.70076526T=	GRCh38
NC_000005.9:g.69372353T= , CM000667.1:g.69372353T=	GRCh37
NC_000005.8:g.69408109T=	NCBI36
NG_008728.1:g.32004T=

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.4:c.840T= MANE Select	NP_059107.1:p.Phe280=
ENST00000380743.9:c.840T= MANE Select	ENSP00000370119.4:p.Phe280=
NM_017411.3:c.840T=	NP_059107.1:p.Phe280=
NM_022875.2:c.835-493T=	NP_075013.1:n.835-493T=
NM_022875.3:c.835-493T=	NP_075013.1:n.835-493T=
NM_022876.2:c.744T=	NP_075014.1:p.Phe248=
NM_022877.2:c.739-493T=	NP_075015.1:n.739-493T=
ENST00000380741.8:c.840T=	ENSP00000370117.5:p.Phe280=
ENST00000380742.8:c.744T=	ENSP00000370118.4:p.Phe248=
ENST00000380743.8:c.840T=	ENSP00000370119.4:p.Phe280=
ENST00000505346.5:n.306T=
ENST00000506734.5:c.*59-493T=	ENSP00000424799.1:n.*59-493T=
ENST00000507458.2:c.94T=
ENST00000511812.5:c.639T=	ENSP00000424282.1:p.Phe213=
ENST00000514914.1:n.381T=
ENST00000614240.4:c.744T=	ENSP00000479279.1:p.Phe248=
ENST00000626847.2:c.835-493T=	ENSP00000486152.1:n.835-493T=
XM_011543600.1:c.639T=	XP_011541902.1:p.Phe213=
XM_011543600.2:c.639T=	XP_011541902.1:p.Phe213=
XM_011543601.1:c.634-493T=	XP_011541903.1:n.634-493T=
XM_011543602.1:c.543T=	XP_011541904.1:p.Phe181=
XM_011543602.3:c.543T=	XP_011541904.1:p.Phe181=
XM_011543603.1:c.538-493T=	XP_011541905.1:n.538-493T=
XM_011543603.3:c.538-493T=	XP_011541905.1:n.538-493T=
XR_948432.1:n.1054+88522T=