Canonical Allele Identifier: CA120719607

Gene: SMN2

Linked Data

• dbSNP Id: rs212213
• gnomAD v2: 5-69372616-G-A
• gnomAD v3: 5-70076789-G-A
• gnomAD v4: 5-70076789-G-A
• MyVariant Identifiers: chr5:g.69372616G>A (hg19) ; chr5:g.70076789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076789G>A , CM000667.2:g.70076789G>A	GRCh38
NC_000005.9:g.69372616G>A , CM000667.1:g.69372616G>A	GRCh37
NC_000005.8:g.69408372G>A	NCBI36
NG_008728.1:g.32267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+215G>A MANE Select	ENSP00000370119.4:n.*3+215G>A
ENST00000380742.8:c.*3+215G>A	ENSP00000370118.4:n.*3+215G>A
ENST00000380743.8:c.*3+215G>A	ENSP00000370119.4:n.*3+215G>A
ENST00000505346.5:n.569G>A
ENST00000506734.5:c.*59-230G>A	ENSP00000424799.1:n.*59-230G>A
ENST00000507458.2:c.142+215G>A
ENST00000514914.1:n.429+215G>A
ENST00000626847.2:c.835-230G>A	ENSP00000486152.1:n.835-230G>A
NM_017411.3:c.*3+215G>A	NP_059107.1:n.*3+215G>A
NM_022875.2:c.835-230G>A	NP_075013.1:n.835-230G>A
NM_022876.2:c.*3+215G>A	NP_075014.1:n.*3+215G>A
NM_022877.2:c.739-230G>A	NP_075015.1:n.739-230G>A
XM_011543600.1:c.*3+215G>A	XP_011541902.1:n.*3+215G>A
XM_011543601.1:c.634-230G>A	XP_011541903.1:n.634-230G>A
XM_011543602.1:c.*3+215G>A	XP_011541904.1:n.*3+215G>A
XM_011543603.1:c.538-230G>A	XP_011541905.1:n.538-230G>A
XR_948432.1:n.1054+88785G>A
XM_011543600.2:c.*3+215G>A	XP_011541902.1:n.*3+215G>A
XM_011543602.3:c.*3+215G>A	XP_011541904.1:n.*3+215G>A
XM_011543603.3:c.538-230G>A	XP_011541905.1:n.538-230G>A
NM_017411.4:c.*3+215G>A MANE Select	NP_059107.1:n.*3+215G>A
NM_022875.3:c.835-230G>A	NP_075013.1:n.835-230G>A