Canonical Allele Identifier: CA2674142326

Gene: SMN2

Linked Data

• gnomAD v4: 5-70076522-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076526del , CM000667.2:g.70076526del	GRCh38
NC_000005.9:g.69372353del , CM000667.1:g.69372353del	GRCh37
NC_000005.8:g.69408109del	NCBI36
NG_008728.1:g.32004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.840del MANE Select	ENSP00000370119.4:p.Phe280LeufsTer14
ENST00000380741.8:c.840del	ENSP00000370117.5:p.Phe280LeufsTer14
ENST00000380742.8:c.744del	ENSP00000370118.4:p.Phe248LeufsTer14
ENST00000380743.8:c.840del	ENSP00000370119.4:p.Phe280LeufsTer14
ENST00000505346.5:n.306del
ENST00000506734.5:c.*59-493del	ENSP00000424799.1:n.*59-493del
ENST00000507458.2:c.94del
ENST00000511812.5:c.639del	ENSP00000424282.1:p.Phe213LeufsTer14
ENST00000514914.1:n.381del
ENST00000614240.4:c.744del	ENSP00000479279.1:p.Phe248LeufsTer14
ENST00000626847.2:c.835-493del	ENSP00000486152.1:n.835-493del
NM_017411.3:c.840del	NP_059107.1:p.Phe280LeufsTer14
NM_022875.2:c.835-493del	NP_075013.1:n.835-493del
NM_022876.2:c.744del	NP_075014.1:p.Phe248LeufsTer14
NM_022877.2:c.739-493del	NP_075015.1:n.739-493del
XM_011543600.1:c.639del	XP_011541902.1:p.Phe213LeufsTer14
XM_011543601.1:c.634-493del	XP_011541903.1:n.634-493del
XM_011543602.1:c.543del	XP_011541904.1:p.Phe181LeufsTer14
XM_011543603.1:c.538-493del	XP_011541905.1:n.538-493del
XR_948432.1:n.1054+88522del
XM_011543600.2:c.639del	XP_011541902.1:p.Phe213LeufsTer14
XM_011543602.3:c.543del	XP_011541904.1:p.Phe181LeufsTer14
XM_011543603.3:c.538-493del	XP_011541905.1:n.538-493del
NM_017411.4:c.840del MANE Select	NP_059107.1:p.Phe280LeufsTer14
NM_022875.3:c.835-493del	NP_075013.1:n.835-493del