Canonical Allele Identifier: CA360087001

Gene: SMN2

Linked Data

• MyVariant Identifiers: chr5:g.69372370A>T (hg19) ; chr5:g.70076543A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076543A>T , CM000667.2:g.70076543A>T	GRCh38
NC_000005.9:g.69372370A>T , CM000667.1:g.69372370A>T	GRCh37
NC_000005.8:g.69408126A>T	NCBI36
NG_008728.1:g.32021A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.857A>T MANE Select	ENSP00000370119.4:p.Glu286Val
ENST00000380741.8:c.857A>T	ENSP00000370117.5:p.Glu286Val
ENST00000380742.8:c.761A>T	ENSP00000370118.4:p.Glu254Val
ENST00000380743.8:c.857A>T	ENSP00000370119.4:p.Glu286Val
ENST00000505346.5:n.323A>T
ENST00000506734.5:c.*59-476A>T	ENSP00000424799.1:n.*59-476A>T
ENST00000507458.2:c.111A>T
ENST00000511812.5:c.656A>T	ENSP00000424282.1:p.Glu219Val
ENST00000514914.1:n.398A>T
ENST00000614240.4:c.761A>T	ENSP00000479279.1:p.Glu254Val
ENST00000626847.2:c.835-476A>T	ENSP00000486152.1:n.835-476A>T
NM_017411.3:c.857A>T	NP_059107.1:p.Glu286Val
NM_022875.2:c.835-476A>T	NP_075013.1:n.835-476A>T
NM_022876.2:c.761A>T	NP_075014.1:p.Glu254Val
NM_022877.2:c.739-476A>T	NP_075015.1:n.739-476A>T
XM_011543600.1:c.656A>T	XP_011541902.1:p.Glu219Val
XM_011543601.1:c.634-476A>T	XP_011541903.1:n.634-476A>T
XM_011543602.1:c.560A>T	XP_011541904.1:p.Glu187Val
XM_011543603.1:c.538-476A>T	XP_011541905.1:n.538-476A>T
XR_948432.1:n.1054+88539A>T
XM_011543600.2:c.656A>T	XP_011541902.1:p.Glu219Val
XM_011543602.3:c.560A>T	XP_011541904.1:p.Glu187Val
XM_011543603.3:c.538-476A>T	XP_011541905.1:n.538-476A>T
NM_017411.4:c.857A>T MANE Select	NP_059107.1:p.Glu286Val
NM_022875.3:c.835-476A>T	NP_075013.1:n.835-476A>T