Canonical Allele Identifier: CA120719611

Gene: SMN2

Linked Data

• dbSNP Id: rs942673049
• gnomAD v3: 5-70076869-C-CT
• gnomAD v4: 5-70076869-C-CT
• MyVariant Identifiers: chr5:g.69372696_69372697insT (hg19) ; chr5:g.70076869_70076870insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076877dup , CM000667.2:g.70076877dup	GRCh38
NC_000005.9:g.69372704dup , CM000667.1:g.69372704dup	GRCh37
NC_000005.8:g.69408460dup	NCBI36
NG_008728.1:g.32355dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*4-142dup MANE Select	ENSP00000370119.4:n.*4-142dup
ENST00000380742.8:c.*4-142dup	ENSP00000370118.4:n.*4-142dup
ENST00000380743.8:c.*4-142dup	ENSP00000370119.4:n.*4-142dup
ENST00000505346.5:n.657dup
ENST00000506734.5:c.*59-142dup	ENSP00000424799.1:n.*59-142dup
ENST00000507458.2:c.143-142dup
ENST00000514914.1:n.430-142dup
ENST00000626847.2:c.835-142dup	ENSP00000486152.1:n.835-142dup
NM_017411.3:c.*4-142dup	NP_059107.1:n.*4-142dup
NM_022875.2:c.835-142dup	NP_075013.1:n.835-142dup
NM_022876.2:c.*4-142dup	NP_075014.1:n.*4-142dup
NM_022877.2:c.739-142dup	NP_075015.1:n.739-142dup
XM_011543600.1:c.*4-142dup	XP_011541902.1:n.*4-142dup
XM_011543601.1:c.634-142dup	XP_011541903.1:n.634-142dup
XM_011543602.1:c.*4-142dup	XP_011541904.1:n.*4-142dup
XM_011543603.1:c.538-142dup	XP_011541905.1:n.538-142dup
XR_948432.1:n.1054+88873dup
XM_011543600.2:c.*4-142dup	XP_011541902.1:n.*4-142dup
XM_011543602.3:c.*4-142dup	XP_011541904.1:n.*4-142dup
XM_011543603.3:c.538-142dup	XP_011541905.1:n.538-142dup
NM_017411.4:c.*4-142dup MANE Select	NP_059107.1:n.*4-142dup
NM_022875.3:c.835-142dup	NP_075013.1:n.835-142dup