Canonical Allele Identifier: CA360086952

Gene: SMN2

Linked Data

• MyVariant Identifiers: chr5:g.69372355G>A (hg19) ; chr5:g.70076528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076528G>A , CM000667.2:g.70076528G>A	GRCh38
NC_000005.9:g.69372355G>A , CM000667.1:g.69372355G>A	GRCh37
NC_000005.8:g.69408111G>A	NCBI36
NG_008728.1:g.32006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.842G>A MANE Select	ENSP00000370119.4:p.Arg281Lys
ENST00000380741.8:c.842G>A	ENSP00000370117.5:p.Arg281Lys
ENST00000380742.8:c.746G>A	ENSP00000370118.4:p.Arg249Lys
ENST00000380743.8:c.842G>A	ENSP00000370119.4:p.Arg281Lys
ENST00000505346.5:n.308G>A
ENST00000506734.5:c.*59-491G>A	ENSP00000424799.1:n.*59-491G>A
ENST00000507458.2:c.96G>A
ENST00000511812.5:c.641G>A	ENSP00000424282.1:p.Arg214Lys
ENST00000514914.1:n.383G>A
ENST00000614240.4:c.746G>A	ENSP00000479279.1:p.Arg249Lys
ENST00000626847.2:c.835-491G>A	ENSP00000486152.1:n.835-491G>A
NM_017411.3:c.842G>A	NP_059107.1:p.Arg281Lys
NM_022875.2:c.835-491G>A	NP_075013.1:n.835-491G>A
NM_022876.2:c.746G>A	NP_075014.1:p.Arg249Lys
NM_022877.2:c.739-491G>A	NP_075015.1:n.739-491G>A
XM_011543600.1:c.641G>A	XP_011541902.1:p.Arg214Lys
XM_011543601.1:c.634-491G>A	XP_011541903.1:n.634-491G>A
XM_011543602.1:c.545G>A	XP_011541904.1:p.Arg182Lys
XM_011543603.1:c.538-491G>A	XP_011541905.1:n.538-491G>A
XR_948432.1:n.1054+88524G>A
XM_011543600.2:c.641G>A	XP_011541902.1:p.Arg214Lys
XM_011543602.3:c.545G>A	XP_011541904.1:p.Arg182Lys
XM_011543603.3:c.538-491G>A	XP_011541905.1:n.538-491G>A
NM_017411.4:c.842G>A MANE Select	NP_059107.1:p.Arg281Lys
NM_022875.3:c.835-491G>A	NP_075013.1:n.835-491G>A