Canonical Allele Identifier: CA3294948

Gene: SMN2

Linked Data

• dbSNP Id: rs372142764
• ExAC: 5:69372416 A / C
• gnomAD v2: 5-69372416-A-C
• gnomAD v3: 5-70076589-A-C
• gnomAD v4: 5-70076589-A-C
• MyVariant Identifiers: chr5:g.69372416A>C (hg19) ; chr5:g.70076589A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076589A>C , CM000667.2:g.70076589A>C	GRCh38
NC_000005.9:g.69372416A>C , CM000667.1:g.69372416A>C	GRCh37
NC_000005.8:g.69408172A>C	NCBI36
NG_008728.1:g.32067A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+15A>C MANE Select	ENSP00000370119.4:n.*3+15A>C
ENST00000380742.8:c.*3+15A>C	ENSP00000370118.4:n.*3+15A>C
ENST00000380743.8:c.*3+15A>C	ENSP00000370119.4:n.*3+15A>C
ENST00000505346.5:n.369A>C
ENST00000506734.5:c.*59-430A>C	ENSP00000424799.1:n.*59-430A>C
ENST00000507458.2:c.142+15A>C
ENST00000511812.5:c.*18A>C	ENSP00000424282.1:n.*18A>C
ENST00000514914.1:n.429+15A>C
ENST00000626847.2:c.835-430A>C	ENSP00000486152.1:n.835-430A>C
NM_017411.3:c.*3+15A>C	NP_059107.1:n.*3+15A>C
NM_022875.2:c.835-430A>C	NP_075013.1:n.835-430A>C
NM_022876.2:c.*3+15A>C	NP_075014.1:n.*3+15A>C
NM_022877.2:c.739-430A>C	NP_075015.1:n.739-430A>C
XM_011543600.1:c.*3+15A>C	XP_011541902.1:n.*3+15A>C
XM_011543601.1:c.634-430A>C	XP_011541903.1:n.634-430A>C
XM_011543602.1:c.*3+15A>C	XP_011541904.1:n.*3+15A>C
XM_011543603.1:c.538-430A>C	XP_011541905.1:n.538-430A>C
XR_948432.1:n.1054+88585A>C
XM_011543600.2:c.*3+15A>C	XP_011541902.1:n.*3+15A>C
XM_011543602.3:c.*3+15A>C	XP_011541904.1:n.*3+15A>C
XM_011543603.3:c.538-430A>C	XP_011541905.1:n.538-430A>C
NM_017411.4:c.*3+15A>C MANE Select	NP_059107.1:n.*3+15A>C
NM_022875.3:c.835-430A>C	NP_075013.1:n.835-430A>C