Canonical Allele Identifier: CA813575940

Gene: SMN2

Linked Data

• dbSNP Id: rs1335719870
• gnomAD v3: 5-70076414-ATGTCT-A
• gnomAD v4: 5-70076414-ATGTCT-A
• MyVariant Identifiers: chr5:g.69372242_69372246del (hg19) ; chr5:g.70076415_70076419del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076418_70076422del , CM000667.2:g.70076418_70076422del	GRCh38
NC_000005.9:g.69372245_69372249del , CM000667.1:g.69372245_69372249del	GRCh37
NC_000005.8:g.69408001_69408005del	NCBI36
NG_008728.1:g.31896_31900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.835-103_835-99del MANE Select	ENSP00000370119.4:n.835-103_835-99del
ENST00000380741.8:c.835-103_835-99del	ENSP00000370117.5:n.835-103_835-99del
ENST00000380742.8:c.739-103_739-99del	ENSP00000370118.4:n.739-103_739-99del
ENST00000380743.8:c.835-103_835-99del	ENSP00000370119.4:n.835-103_835-99del
ENST00000505346.5:n.301-103_301-99del
ENST00000506734.5:c.*59-601_*59-597del	ENSP00000424799.1:n.*59-601_*59-597del
ENST00000507458.2:c.89-103_89-99del
ENST00000511812.5:c.634-103_634-99del	ENSP00000424282.1:n.634-103_634-99del
ENST00000514914.1:n.376-103_376-99del
ENST00000614240.4:c.739-103_739-99del	ENSP00000479279.1:n.739-103_739-99del
ENST00000626847.2:c.835-601_835-597del	ENSP00000486152.1:n.835-601_835-597del
NM_017411.3:c.835-103_835-99del	NP_059107.1:n.835-103_835-99del
NM_022875.2:c.835-601_835-597del	NP_075013.1:n.835-601_835-597del
NM_022876.2:c.739-103_739-99del	NP_075014.1:n.739-103_739-99del
NM_022877.2:c.739-601_739-597del	NP_075015.1:n.739-601_739-597del
XM_011543600.1:c.634-103_634-99del	XP_011541902.1:n.634-103_634-99del
XM_011543601.1:c.634-601_634-597del	XP_011541903.1:n.634-601_634-597del
XM_011543602.1:c.538-103_538-99del	XP_011541904.1:n.538-103_538-99del
XM_011543603.1:c.538-601_538-597del	XP_011541905.1:n.538-601_538-597del
XR_948432.1:n.1054+88414_1054+88418del
XM_011543600.2:c.634-103_634-99del	XP_011541902.1:n.634-103_634-99del
XM_011543602.3:c.538-103_538-99del	XP_011541904.1:n.538-103_538-99del
XM_011543603.3:c.538-601_538-597del	XP_011541905.1:n.538-601_538-597del
NM_017411.4:c.835-103_835-99del MANE Select	NP_059107.1:n.835-103_835-99del
NM_022875.3:c.835-601_835-597del	NP_075013.1:n.835-601_835-597del