Canonical Allele Identifier: CA2534687783

Gene: SMN2

Linked Data

• dbSNP Id: rs2112493108
• gnomAD v4: 5-70076691-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076691T>C , CM000667.2:g.70076691T>C	GRCh38
NC_000005.9:g.69372518T>C , CM000667.1:g.69372518T>C	GRCh37
NC_000005.8:g.69408274T>C	NCBI36
NG_008728.1:g.32169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+117T>C MANE Select	ENSP00000370119.4:n.*3+117T>C
ENST00000380742.8:c.*3+117T>C	ENSP00000370118.4:n.*3+117T>C
ENST00000380743.8:c.*3+117T>C	ENSP00000370119.4:n.*3+117T>C
ENST00000505346.5:n.471T>C
ENST00000506734.5:c.*59-328T>C	ENSP00000424799.1:n.*59-328T>C
ENST00000507458.2:c.142+117T>C
ENST00000511812.5:c.*120T>C	ENSP00000424282.1:n.*120T>C
ENST00000514914.1:n.429+117T>C
ENST00000626847.2:c.835-328T>C	ENSP00000486152.1:n.835-328T>C
NM_017411.3:c.*3+117T>C	NP_059107.1:n.*3+117T>C
NM_022875.2:c.835-328T>C	NP_075013.1:n.835-328T>C
NM_022876.2:c.*3+117T>C	NP_075014.1:n.*3+117T>C
NM_022877.2:c.739-328T>C	NP_075015.1:n.739-328T>C
XM_011543600.1:c.*3+117T>C	XP_011541902.1:n.*3+117T>C
XM_011543601.1:c.634-328T>C	XP_011541903.1:n.634-328T>C
XM_011543602.1:c.*3+117T>C	XP_011541904.1:n.*3+117T>C
XM_011543603.1:c.538-328T>C	XP_011541905.1:n.538-328T>C
XR_948432.1:n.1054+88687T>C
XM_011543600.2:c.*3+117T>C	XP_011541902.1:n.*3+117T>C
XM_011543602.3:c.*3+117T>C	XP_011541904.1:n.*3+117T>C
XM_011543603.3:c.538-328T>C	XP_011541905.1:n.538-328T>C
NM_017411.4:c.*3+117T>C MANE Select	NP_059107.1:n.*3+117T>C
NM_022875.3:c.835-328T>C	NP_075013.1:n.835-328T>C