Canonical Allele Identifier: CA813576210

Gene: SMN2

Linked Data

• dbSNP Id: rs1219698824
• gnomAD v3: 5-70076725-A-C
• gnomAD v4: 5-70076725-A-C
• MyVariant Identifiers: chr5:g.69372552A>C (hg19) ; chr5:g.70076725A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076725A>C , CM000667.2:g.70076725A>C	GRCh38
NC_000005.9:g.69372552A>C , CM000667.1:g.69372552A>C	GRCh37
NC_000005.8:g.69408308A>C	NCBI36
NG_008728.1:g.32203A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+151A>C MANE Select	ENSP00000370119.4:n.*3+151A>C
ENST00000380742.8:c.*3+151A>C	ENSP00000370118.4:n.*3+151A>C
ENST00000380743.8:c.*3+151A>C	ENSP00000370119.4:n.*3+151A>C
ENST00000505346.5:n.505A>C
ENST00000506734.5:c.*59-294A>C	ENSP00000424799.1:n.*59-294A>C
ENST00000507458.2:c.142+151A>C
ENST00000514914.1:n.429+151A>C
ENST00000626847.2:c.835-294A>C	ENSP00000486152.1:n.835-294A>C
NM_017411.3:c.*3+151A>C	NP_059107.1:n.*3+151A>C
NM_022875.2:c.835-294A>C	NP_075013.1:n.835-294A>C
NM_022876.2:c.*3+151A>C	NP_075014.1:n.*3+151A>C
NM_022877.2:c.739-294A>C	NP_075015.1:n.739-294A>C
XM_011543600.1:c.*3+151A>C	XP_011541902.1:n.*3+151A>C
XM_011543601.1:c.634-294A>C	XP_011541903.1:n.634-294A>C
XM_011543602.1:c.*3+151A>C	XP_011541904.1:n.*3+151A>C
XM_011543603.1:c.538-294A>C	XP_011541905.1:n.538-294A>C
XR_948432.1:n.1054+88721A>C
XM_011543600.2:c.*3+151A>C	XP_011541902.1:n.*3+151A>C
XM_011543602.3:c.*3+151A>C	XP_011541904.1:n.*3+151A>C
XM_011543603.3:c.538-294A>C	XP_011541905.1:n.538-294A>C
NM_017411.4:c.*3+151A>C MANE Select	NP_059107.1:n.*3+151A>C
NM_022875.3:c.835-294A>C	NP_075013.1:n.835-294A>C