Canonical Allele Identifier: CA560271784

Gene: SMN2

Linked Data

• dbSNP Id: rs1176222456
• gnomAD v2: 5-69372688-C-CA
• gnomAD v3: 5-70076861-C-CA
• gnomAD v4: 5-70076861-C-CA
• MyVariant Identifiers: chr5:g.69372688_69372689insA (hg19) ; chr5:g.70076861_70076862insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076861_70076862insA , CM000667.2:g.70076861_70076862insA	GRCh38
NC_000005.9:g.69372688_69372689insA , CM000667.1:g.69372688_69372689insA	GRCh37
NC_000005.8:g.69408444_69408445insA	NCBI36
NG_008728.1:g.32339_32340insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*4-158_*4-157insA MANE Select	ENSP00000370119.4:n.*4-158_*4-157insA
ENST00000380742.8:c.*4-158_*4-157insA	ENSP00000370118.4:n.*4-158_*4-157insA
ENST00000380743.8:c.*4-158_*4-157insA	ENSP00000370119.4:n.*4-158_*4-157insA
ENST00000505346.5:n.641_642insA
ENST00000506734.5:c.*59-158_*59-157insA	ENSP00000424799.1:n.*59-158_*59-157insA
ENST00000507458.2:c.143-158_143-157insA
ENST00000514914.1:n.430-158_430-157insA
ENST00000626847.2:c.835-158_835-157insA	ENSP00000486152.1:n.835-158_835-157insA
NM_017411.3:c.*4-158_*4-157insA	NP_059107.1:n.*4-158_*4-157insA
NM_022875.2:c.835-158_835-157insA	NP_075013.1:n.835-158_835-157insA
NM_022876.2:c.*4-158_*4-157insA	NP_075014.1:n.*4-158_*4-157insA
NM_022877.2:c.739-158_739-157insA	NP_075015.1:n.739-158_739-157insA
XM_011543600.1:c.*4-158_*4-157insA	XP_011541902.1:n.*4-158_*4-157insA
XM_011543601.1:c.634-158_634-157insA	XP_011541903.1:n.634-158_634-157insA
XM_011543602.1:c.*4-158_*4-157insA	XP_011541904.1:n.*4-158_*4-157insA
XM_011543603.1:c.538-158_538-157insA	XP_011541905.1:n.538-158_538-157insA
XR_948432.1:n.1054+88857_1054+88858insA
XM_011543600.2:c.*4-158_*4-157insA	XP_011541902.1:n.*4-158_*4-157insA
XM_011543602.3:c.*4-158_*4-157insA	XP_011541904.1:n.*4-158_*4-157insA
XM_011543603.3:c.538-158_538-157insA	XP_011541905.1:n.538-158_538-157insA
NM_017411.4:c.*4-158_*4-157insA MANE Select	NP_059107.1:n.*4-158_*4-157insA
NM_022875.3:c.835-158_835-157insA	NP_075013.1:n.835-158_835-157insA