Canonical Allele Identifier: CA1554042327

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070740G= , CM000667.2:g.70070740G=	GRCh38
NC_000005.9:g.69366567G= , CM000667.1:g.69366567G=	GRCh37
NC_000005.8:g.69402323G=	NCBI36
NG_008728.1:g.26218G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000380743.9:c.823G= MANE Select	ENSP00000370119.4:p.Gly275=
ENST00000638794.1:c.823G=	ENSP00000492675.1:p.Gly275=
ENST00000380741.8:c.823G=	ENSP00000370117.5:p.Gly275=
ENST00000380742.8:c.727G=	ENSP00000370118.4:p.Gly243=
ENST00000380743.8:c.823G=	ENSP00000370119.4:p.Gly275=
ENST00000503678.5:n.746G=
ENST00000505346.5:n.289G=
ENST00000506734.5:c.823G=	ENSP00000424799.1:p.Gly275=
ENST00000507458.2:c.77G=
ENST00000508258.1:n.198G=
ENST00000509805.5:n.390G=
ENST00000511812.5:c.622G=	ENSP00000424282.1:p.Gly208=
ENST00000514914.1:n.364G=
ENST00000614240.4:c.727G=	ENSP00000479279.1:p.Gly243=
ENST00000626847.2:c.823G=	ENSP00000486152.1:p.Gly275=
ENST00000628696.2:c.823G=	ENSP00000486268.1:p.Gly275=
NM_017411.3:c.823G=	NP_059107.1:p.Gly275=
NM_022875.2:c.823G=	NP_075013.1:p.Gly275=
NM_022876.2:c.727G=	NP_075014.1:p.Gly243=
NM_022877.2:c.727G=	NP_075015.1:p.Gly243=
XM_011543599.1:c.823G=	XP_011541901.1:p.Gly275=
XM_011543600.1:c.622G=	XP_011541902.1:p.Gly208=
XM_011543601.1:c.622G=	XP_011541903.1:p.Gly208=
XM_011543602.1:c.526G=	XP_011541904.1:p.Gly176=
XM_011543603.1:c.526G=	XP_011541905.1:p.Gly176=
XR_948432.1:n.1054+82736G=
XM_011543600.2:c.622G=	XP_011541902.1:p.Gly208=
XM_011543602.3:c.526G=	XP_011541904.1:p.Gly176=
XM_011543603.3:c.526G=	XP_011541905.1:p.Gly176=
XM_017009787.1:c.823G=	XP_016865276.1:p.Gly275=
NM_017411.4:c.823G= MANE Select	NP_059107.1:p.Gly275=
NM_022875.3:c.823G=	NP_075013.1:p.Gly275=