Canonical Allele Identifier: CA2674142327

Gene: SMN2

Linked Data

• gnomAD v4: 5-70076538-AAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076541_70076544del , CM000667.2:g.70076541_70076544del	GRCh38
NC_000005.9:g.69372368_69372371del , CM000667.1:g.69372368_69372371del	GRCh37
NC_000005.8:g.69408124_69408127del	NCBI36
NG_008728.1:g.32019_32022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.855_858del MANE Select	ENSP00000370119.4:p.Arg288AlafsTer5
ENST00000380741.8:c.855_858del	ENSP00000370117.5:p.Arg288AlafsTer5
ENST00000380742.8:c.759_762del	ENSP00000370118.4:p.Arg256AlafsTer5
ENST00000380743.8:c.855_858del	ENSP00000370119.4:p.Arg288AlafsTer5
ENST00000505346.5:n.321_324del
ENST00000506734.5:c.*59-478_*59-475del	ENSP00000424799.1:n.*59-478_*59-475del
ENST00000507458.2:c.109_112del
ENST00000511812.5:c.654_657del	ENSP00000424282.1:p.Arg221AlafsTer5
ENST00000514914.1:n.396_399del
ENST00000614240.4:c.759_762del	ENSP00000479279.1:p.Arg256AlafsTer5
ENST00000626847.2:c.835-478_835-475del	ENSP00000486152.1:n.835-478_835-475del
NM_017411.3:c.855_858del	NP_059107.1:p.Arg288AlafsTer5
NM_022875.2:c.835-478_835-475del	NP_075013.1:n.835-478_835-475del
NM_022876.2:c.759_762del	NP_075014.1:p.Arg256AlafsTer5
NM_022877.2:c.739-478_739-475del	NP_075015.1:n.739-478_739-475del
XM_011543600.1:c.654_657del	XP_011541902.1:p.Arg221AlafsTer5
XM_011543601.1:c.634-478_634-475del	XP_011541903.1:n.634-478_634-475del
XM_011543602.1:c.558_561del	XP_011541904.1:p.Arg189AlafsTer5
XM_011543603.1:c.538-478_538-475del	XP_011541905.1:n.538-478_538-475del
XR_948432.1:n.1054+88537_1054+88540del
XM_011543600.2:c.654_657del	XP_011541902.1:p.Arg221AlafsTer5
XM_011543602.3:c.558_561del	XP_011541904.1:p.Arg189AlafsTer5
XM_011543603.3:c.538-478_538-475del	XP_011541905.1:n.538-478_538-475del
NM_017411.4:c.855_858del MANE Select	NP_059107.1:p.Arg288AlafsTer5
NM_022875.3:c.835-478_835-475del	NP_075013.1:n.835-478_835-475del