Canonical Allele Identifier: CA2674142215

Gene: SMN2

Linked Data

• gnomAD v4: 5-70076427-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076431del , CM000667.2:g.70076431del	GRCh38
NC_000005.9:g.69372258del , CM000667.1:g.69372258del	GRCh37
NC_000005.8:g.69408014del	NCBI36
NG_008728.1:g.31909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.835-90del MANE Select	ENSP00000370119.4:n.835-90del
ENST00000380741.8:c.835-90del	ENSP00000370117.5:n.835-90del
ENST00000380742.8:c.739-90del	ENSP00000370118.4:n.739-90del
ENST00000380743.8:c.835-90del	ENSP00000370119.4:n.835-90del
ENST00000505346.5:n.301-90del
ENST00000506734.5:c.*59-588del	ENSP00000424799.1:n.*59-588del
ENST00000507458.2:c.89-90del
ENST00000511812.5:c.634-90del	ENSP00000424282.1:n.634-90del
ENST00000514914.1:n.376-90del
ENST00000614240.4:c.739-90del	ENSP00000479279.1:n.739-90del
ENST00000626847.2:c.835-588del	ENSP00000486152.1:n.835-588del
NM_017411.3:c.835-90del	NP_059107.1:n.835-90del
NM_022875.2:c.835-588del	NP_075013.1:n.835-588del
NM_022876.2:c.739-90del	NP_075014.1:n.739-90del
NM_022877.2:c.739-588del	NP_075015.1:n.739-588del
XM_011543600.1:c.634-90del	XP_011541902.1:n.634-90del
XM_011543601.1:c.634-588del	XP_011541903.1:n.634-588del
XM_011543602.1:c.538-90del	XP_011541904.1:n.538-90del
XM_011543603.1:c.538-588del	XP_011541905.1:n.538-588del
XR_948432.1:n.1054+88427del
XM_011543600.2:c.634-90del	XP_011541902.1:n.634-90del
XM_011543602.3:c.538-90del	XP_011541904.1:n.538-90del
XM_011543603.3:c.538-588del	XP_011541905.1:n.538-588del
NM_017411.4:c.835-90del MANE Select	NP_059107.1:n.835-90del
NM_022875.3:c.835-588del	NP_075013.1:n.835-588del