Canonical Allele Identifier: CA1554042322

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070651C= , CM000667.2:g.70070651C=	GRCh38
NC_000005.9:g.69366478C= , CM000667.1:g.69366478C=	GRCh37
NC_000005.8:g.69402234C=	NCBI36
NG_008728.1:g.26129C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.734C= MANE Select	ENSP00000370119.4:p.Pro245=
ENST00000638794.1:c.734C=	ENSP00000492675.1:p.Pro245=
ENST00000380741.8:c.734C=	ENSP00000370117.5:p.Pro245=
ENST00000380742.8:c.638C=	ENSP00000370118.4:p.Pro213=
ENST00000380743.8:c.734C=	ENSP00000370119.4:p.Pro245=
ENST00000503678.5:n.657C=
ENST00000505346.5:n.200C=
ENST00000506734.5:c.734C=	ENSP00000424799.1:p.Pro245=
ENST00000508258.1:n.109C=
ENST00000509805.5:n.301C=
ENST00000511812.5:c.533C=	ENSP00000424282.1:p.Pro178=
ENST00000511873.6:c.428C=	ENSP00000475824.1:n.428C=
ENST00000514914.1:n.275C=
ENST00000614240.4:c.638C=	ENSP00000479279.1:p.Pro213=
ENST00000626847.2:c.734C=	ENSP00000486152.1:p.Pro245=
ENST00000628696.2:c.734C=	ENSP00000486268.1:p.Pro245=
NM_017411.3:c.734C=	NP_059107.1:p.Pro245=
NM_022875.2:c.734C=	NP_075013.1:p.Pro245=
NM_022876.2:c.638C=	NP_075014.1:p.Pro213=
NM_022877.2:c.638C=	NP_075015.1:p.Pro213=
XM_011543599.1:c.734C=	XP_011541901.1:p.Pro245=
XM_011543600.1:c.533C=	XP_011541902.1:p.Pro178=
XM_011543601.1:c.533C=	XP_011541903.1:p.Pro178=
XM_011543602.1:c.437C=	XP_011541904.1:p.Pro146=
XM_011543603.1:c.437C=	XP_011541905.1:p.Pro146=
XR_948432.1:n.1054+82647C=
XM_011543600.2:c.533C=	XP_011541902.1:p.Pro178=
XM_011543602.3:c.437C=	XP_011541904.1:p.Pro146=
XM_011543603.3:c.437C=	XP_011541905.1:p.Pro146=
XM_017009787.1:c.734C=	XP_016865276.1:p.Pro245=
NM_017411.4:c.734C= MANE Select	NP_059107.1:p.Pro245=
NM_022875.3:c.734C=	NP_075013.1:p.Pro245=