Canonical Allele Identifier: CA2766887513

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070516A>C , CM000667.2:g.70070516A>C	GRCh38
NC_000005.9:g.69366343A>C , CM000667.1:g.69366343A>C	GRCh37
NC_000005.8:g.69402099A>C	NCBI36
NG_008728.1:g.25994A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.724-125A>C MANE Select	ENSP00000370119.4:n.724-125A>C
ENST00000638794.1:c.724-125A>C	ENSP00000492675.1:n.724-125A>C
ENST00000380741.8:c.724-125A>C	ENSP00000370117.5:n.724-125A>C
ENST00000380742.8:c.628-125A>C	ENSP00000370118.4:n.628-125A>C
ENST00000380743.8:c.724-125A>C	ENSP00000370119.4:n.724-125A>C
ENST00000503678.5:n.647-125A>C
ENST00000505346.5:n.190-125A>C
ENST00000506734.5:c.724-125A>C	ENSP00000424799.1:n.724-125A>C
ENST00000508258.1:n.99-125A>C
ENST00000509805.5:n.291-125A>C
ENST00000511812.5:c.523-125A>C	ENSP00000424282.1:n.523-125A>C
ENST00000511873.6:c.418-125A>C	ENSP00000475824.1:n.418-125A>C
ENST00000514914.1:n.265-125A>C
ENST00000614240.4:c.628-125A>C	ENSP00000479279.1:n.628-125A>C
ENST00000626847.2:c.724-125A>C	ENSP00000486152.1:n.724-125A>C
ENST00000628696.2:c.724-125A>C	ENSP00000486268.1:n.724-125A>C
NM_017411.3:c.724-125A>C	NP_059107.1:n.724-125A>C
NM_022875.2:c.724-125A>C	NP_075013.1:n.724-125A>C
NM_022876.2:c.628-125A>C	NP_075014.1:n.628-125A>C
NM_022877.2:c.628-125A>C	NP_075015.1:n.628-125A>C
XM_011543599.1:c.724-125A>C	XP_011541901.1:n.724-125A>C
XM_011543600.1:c.523-125A>C	XP_011541902.1:n.523-125A>C
XM_011543601.1:c.523-125A>C	XP_011541903.1:n.523-125A>C
XM_011543602.1:c.427-125A>C	XP_011541904.1:n.427-125A>C
XM_011543603.1:c.427-125A>C	XP_011541905.1:n.427-125A>C
XR_948432.1:n.1054+82512A>C
XM_011543600.2:c.523-125A>C	XP_011541902.1:n.523-125A>C
XM_011543602.3:c.427-125A>C	XP_011541904.1:n.427-125A>C
XM_011543603.3:c.427-125A>C	XP_011541905.1:n.427-125A>C
XM_017009787.1:c.724-125A>C	XP_016865276.1:n.724-125A>C
NM_017411.4:c.724-125A>C MANE Select	NP_059107.1:n.724-125A>C
NM_022875.3:c.724-125A>C	NP_075013.1:n.724-125A>C