Canonical Allele Identifier: CA444901720

Gene: SMN2

Linked Data

• MyVariant Identifiers: chr5:g.69372383A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076556A>T , CM000667.2:g.70076556A>T	GRCh38
NC_000005.9:g.69372383A>T , CM000667.1:g.69372383A>T	GRCh37
NC_000005.8:g.69408139A>T	NCBI36
NG_008728.1:g.32034A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.870A>T MANE Select	ENSP00000370119.4:p.Ser290=
ENST00000380741.8:c.870A>T	ENSP00000370117.5:p.Ser290=
ENST00000380742.8:c.774A>T	ENSP00000370118.4:p.Ser258=
ENST00000380743.8:c.870A>T	ENSP00000370119.4:p.Ser290=
ENST00000505346.5:n.336A>T
ENST00000506734.5:c.*59-463A>T	ENSP00000424799.1:n.*59-463A>T
ENST00000507458.2:c.124A>T
ENST00000511812.5:c.669A>T	ENSP00000424282.1:p.Ser223=
ENST00000514914.1:n.411A>T
ENST00000614240.4:c.774A>T	ENSP00000479279.1:p.Ser258=
ENST00000626847.2:c.835-463A>T	ENSP00000486152.1:n.835-463A>T
NM_017411.3:c.870A>T	NP_059107.1:p.Ser290=
NM_022875.2:c.835-463A>T	NP_075013.1:n.835-463A>T
NM_022876.2:c.774A>T	NP_075014.1:p.Ser258=
NM_022877.2:c.739-463A>T	NP_075015.1:n.739-463A>T
XM_011543600.1:c.669A>T	XP_011541902.1:p.Ser223=
XM_011543601.1:c.634-463A>T	XP_011541903.1:n.634-463A>T
XM_011543602.1:c.573A>T	XP_011541904.1:p.Ser191=
XM_011543603.1:c.538-463A>T	XP_011541905.1:n.538-463A>T
XR_948432.1:n.1054+88552A>T
XM_011543600.2:c.669A>T	XP_011541902.1:p.Ser223=
XM_011543602.3:c.573A>T	XP_011541904.1:p.Ser191=
XM_011543603.3:c.538-463A>T	XP_011541905.1:n.538-463A>T
NM_017411.4:c.870A>T MANE Select	NP_059107.1:p.Ser290=
NM_022875.3:c.835-463A>T	NP_075013.1:n.835-463A>T