Canonical Allele Identifier: CA360087072

Gene: SMN2

Linked Data

• dbSNP Id: rs1332921390
• gnomAD v2: 5-69372388-C-A
• gnomAD v4: 5-70076561-C-A
• MyVariant Identifiers: chr5:g.69372388C>A (hg19) ; chr5:g.70076561C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076561C>A , CM000667.2:g.70076561C>A	GRCh38
NC_000005.9:g.69372388C>A , CM000667.1:g.69372388C>A	GRCh37
NC_000005.8:g.69408144C>A	NCBI36
NG_008728.1:g.32039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.875C>A MANE Select	ENSP00000370119.4:p.Ser292Tyr
ENST00000380741.8:c.875C>A	ENSP00000370117.5:p.Ser292Tyr
ENST00000380742.8:c.779C>A	ENSP00000370118.4:p.Ser260Tyr
ENST00000380743.8:c.875C>A	ENSP00000370119.4:p.Ser292Tyr
ENST00000505346.5:n.341C>A
ENST00000506734.5:c.*59-458C>A	ENSP00000424799.1:n.*59-458C>A
ENST00000507458.2:c.129C>A
ENST00000511812.5:c.674C>A	ENSP00000424282.1:p.Ser225Tyr
ENST00000514914.1:n.416C>A
ENST00000614240.4:c.779C>A	ENSP00000479279.1:p.Ser260Tyr
ENST00000626847.2:c.835-458C>A	ENSP00000486152.1:n.835-458C>A
NM_017411.3:c.875C>A	NP_059107.1:p.Ser292Tyr
NM_022875.2:c.835-458C>A	NP_075013.1:n.835-458C>A
NM_022876.2:c.779C>A	NP_075014.1:p.Ser260Tyr
NM_022877.2:c.739-458C>A	NP_075015.1:n.739-458C>A
XM_011543600.1:c.674C>A	XP_011541902.1:p.Ser225Tyr
XM_011543601.1:c.634-458C>A	XP_011541903.1:n.634-458C>A
XM_011543602.1:c.578C>A	XP_011541904.1:p.Ser193Tyr
XM_011543603.1:c.538-458C>A	XP_011541905.1:n.538-458C>A
XR_948432.1:n.1054+88557C>A
XM_011543600.2:c.674C>A	XP_011541902.1:p.Ser225Tyr
XM_011543602.3:c.578C>A	XP_011541904.1:p.Ser193Tyr
XM_011543603.3:c.538-458C>A	XP_011541905.1:n.538-458C>A
NM_017411.4:c.875C>A MANE Select	NP_059107.1:p.Ser292Tyr
NM_022875.3:c.835-458C>A	NP_075013.1:n.835-458C>A