Canonical Allele Identifier: CA360087024

Gene: SMN2

Linked Data

• MyVariant Identifiers: chr5:g.69372377G>C (hg19) ; chr5:g.70076550G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076550G>C , CM000667.2:g.70076550G>C	GRCh38
NC_000005.9:g.69372377G>C , CM000667.1:g.69372377G>C	GRCh37
NC_000005.8:g.69408133G>C	NCBI36
NG_008728.1:g.32028G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.864G>C MANE Select	ENSP00000370119.4:p.Arg288Ser
ENST00000380741.8:c.864G>C	ENSP00000370117.5:p.Arg288Ser
ENST00000380742.8:c.768G>C	ENSP00000370118.4:p.Arg256Ser
ENST00000380743.8:c.864G>C	ENSP00000370119.4:p.Arg288Ser
ENST00000505346.5:n.330G>C
ENST00000506734.5:c.*59-469G>C	ENSP00000424799.1:n.*59-469G>C
ENST00000507458.2:c.118G>C
ENST00000511812.5:c.663G>C	ENSP00000424282.1:p.Arg221Ser
ENST00000514914.1:n.405G>C
ENST00000614240.4:c.768G>C	ENSP00000479279.1:p.Arg256Ser
ENST00000626847.2:c.835-469G>C	ENSP00000486152.1:n.835-469G>C
NM_017411.3:c.864G>C	NP_059107.1:p.Arg288Ser
NM_022875.2:c.835-469G>C	NP_075013.1:n.835-469G>C
NM_022876.2:c.768G>C	NP_075014.1:p.Arg256Ser
NM_022877.2:c.739-469G>C	NP_075015.1:n.739-469G>C
XM_011543600.1:c.663G>C	XP_011541902.1:p.Arg221Ser
XM_011543601.1:c.634-469G>C	XP_011541903.1:n.634-469G>C
XM_011543602.1:c.567G>C	XP_011541904.1:p.Arg189Ser
XM_011543603.1:c.538-469G>C	XP_011541905.1:n.538-469G>C
XR_948432.1:n.1054+88546G>C
XM_011543600.2:c.663G>C	XP_011541902.1:p.Arg221Ser
XM_011543602.3:c.567G>C	XP_011541904.1:p.Arg189Ser
XM_011543603.3:c.538-469G>C	XP_011541905.1:n.538-469G>C
NM_017411.4:c.864G>C MANE Select	NP_059107.1:p.Arg288Ser
NM_022875.3:c.835-469G>C	NP_075013.1:n.835-469G>C