Canonical Allele Identifier: CA2674142387

Gene: SMN2

Linked Data

• gnomAD v4: 5-70076720-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076721dup , CM000667.2:g.70076721dup	GRCh38
NC_000005.9:g.69372548dup , CM000667.1:g.69372548dup	GRCh37
NC_000005.8:g.69408304dup	NCBI36
NG_008728.1:g.32199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+147dup MANE Select	ENSP00000370119.4:n.*3+147dup
ENST00000380742.8:c.*3+147dup	ENSP00000370118.4:n.*3+147dup
ENST00000380743.8:c.*3+147dup	ENSP00000370119.4:n.*3+147dup
ENST00000505346.5:n.501dup
ENST00000506734.5:c.*59-298dup	ENSP00000424799.1:n.*59-298dup
ENST00000507458.2:c.142+147dup
ENST00000514914.1:n.429+147dup
ENST00000626847.2:c.835-298dup	ENSP00000486152.1:n.835-298dup
NM_017411.3:c.*3+147dup	NP_059107.1:n.*3+147dup
NM_022875.2:c.835-298dup	NP_075013.1:n.835-298dup
NM_022876.2:c.*3+147dup	NP_075014.1:n.*3+147dup
NM_022877.2:c.739-298dup	NP_075015.1:n.739-298dup
XM_011543600.1:c.*3+147dup	XP_011541902.1:n.*3+147dup
XM_011543601.1:c.634-298dup	XP_011541903.1:n.634-298dup
XM_011543602.1:c.*3+147dup	XP_011541904.1:n.*3+147dup
XM_011543603.1:c.538-298dup	XP_011541905.1:n.538-298dup
XR_948432.1:n.1054+88717dup
XM_011543600.2:c.*3+147dup	XP_011541902.1:n.*3+147dup
XM_011543602.3:c.*3+147dup	XP_011541904.1:n.*3+147dup
XM_011543603.3:c.538-298dup	XP_011541905.1:n.538-298dup
NM_017411.4:c.*3+147dup MANE Select	NP_059107.1:n.*3+147dup
NM_022875.3:c.835-298dup	NP_075013.1:n.835-298dup