Canonical Allele Identifier: CA813576354

Gene: SMN2

Linked Data

• dbSNP Id: rs1281976356
• gnomAD v3: 5-70076916-ACT-A
• gnomAD v4: 5-70076916-ACT-A
• MyVariant Identifiers: chr5:g.69372744_69372745del (hg19) ; chr5:g.70076917_70076918del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076919_70076920del , CM000667.2:g.70076919_70076920del	GRCh38
NC_000005.9:g.69372746_69372747del , CM000667.1:g.69372746_69372747del	GRCh37
NC_000005.8:g.69408502_69408503del	NCBI36
NG_008728.1:g.32397_32398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*4-100_*4-99del MANE Select	ENSP00000370119.4:n.*4-100_*4-99del
ENST00000380742.8:c.*4-100_*4-99del	ENSP00000370118.4:n.*4-100_*4-99del
ENST00000380743.8:c.*4-100_*4-99del	ENSP00000370119.4:n.*4-100_*4-99del
ENST00000505346.5:n.699_700del
ENST00000506734.5:c.*59-100_*59-99del	ENSP00000424799.1:n.*59-100_*59-99del
ENST00000507458.2:c.143-100_143-99del
ENST00000514914.1:n.430-100_430-99del
ENST00000626847.2:c.835-100_835-99del	ENSP00000486152.1:n.835-100_835-99del
NM_017411.3:c.*4-100_*4-99del	NP_059107.1:n.*4-100_*4-99del
NM_022875.2:c.835-100_835-99del	NP_075013.1:n.835-100_835-99del
NM_022876.2:c.*4-100_*4-99del	NP_075014.1:n.*4-100_*4-99del
NM_022877.2:c.739-100_739-99del	NP_075015.1:n.739-100_739-99del
XM_011543600.1:c.*4-100_*4-99del	XP_011541902.1:n.*4-100_*4-99del
XM_011543601.1:c.634-100_634-99del	XP_011541903.1:n.634-100_634-99del
XM_011543602.1:c.*4-100_*4-99del	XP_011541904.1:n.*4-100_*4-99del
XM_011543603.1:c.538-100_538-99del	XP_011541905.1:n.538-100_538-99del
XR_948432.1:n.1054+88915_1054+88916del
XM_011543600.2:c.*4-100_*4-99del	XP_011541902.1:n.*4-100_*4-99del
XM_011543602.3:c.*4-100_*4-99del	XP_011541904.1:n.*4-100_*4-99del
XM_011543603.3:c.538-100_538-99del	XP_011541905.1:n.538-100_538-99del
NM_017411.4:c.*4-100_*4-99del MANE Select	NP_059107.1:n.*4-100_*4-99del
NM_022875.3:c.835-100_835-99del	NP_075013.1:n.835-100_835-99del