Canonical Allele Identifier: CA813570070

Gene: SMN2

Linked Data

• dbSNP Id: rs1490073523
• gnomAD v3: 5-70049700-CGGCGGCAGTGGT-C
• gnomAD v4: 5-70049700-CGGCGGCAGTGGT-C
• MyVariant Identifiers: chr5:g.69345528_69345539del (hg19) ; chr5:g.70049701_70049712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049707_70049718del , CM000667.2:g.70049707_70049718del	GRCh38
NC_000005.9:g.69345534_69345545del , CM000667.1:g.69345534_69345545del	GRCh37
NC_000005.8:g.69381290_69381301del	NCBI36
NG_008728.1:g.5185_5196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.22_33del MANE Select	ENSP00000370119.4:p.Ser8_Gly11del
ENST00000638794.1:c.22_33del	ENSP00000492675.1:p.Ser8_Gly11del
ENST00000380741.8:c.22_33del	ENSP00000370117.5:p.Ser8_Gly11del
ENST00000380742.8:c.22_33del	ENSP00000370118.4:p.Ser8_Gly11del
ENST00000380743.8:c.22_33del	ENSP00000370119.4:p.Ser8_Gly11del
ENST00000506734.5:c.22_33del	ENSP00000424799.1:p.Ser8_Gly11del
ENST00000511812.5:c.22_33del	ENSP00000424282.1:p.Ser8_Gly11del
ENST00000614240.4:c.22_33del	ENSP00000479279.1:p.Ser8_Gly11del
ENST00000626847.2:c.22_33del	ENSP00000486152.1:p.Ser8_Gly11del
ENST00000628696.2:c.22_33del	ENSP00000486268.1:p.Ser8_Gly11del
NM_017411.3:c.22_33del	NP_059107.1:p.Ser8_Gly11del
NM_022875.2:c.22_33del	NP_075013.1:p.Ser8_Gly11del
NM_022876.2:c.22_33del	NP_075014.1:p.Ser8_Gly11del
NM_022877.2:c.22_33del	NP_075015.1:p.Ser8_Gly11del
XM_011543599.1:c.22_33del	XP_011541901.1:p.Ser8_Gly11del
XM_011543600.1:c.22_33del	XP_011541902.1:p.Ser8_Gly11del
XM_011543601.1:c.22_33del	XP_011541903.1:p.Ser8_Gly11del
XM_011543602.1:c.22_33del	XP_011541904.1:p.Ser8_Gly11del
XM_011543603.1:c.22_33del	XP_011541905.1:p.Ser8_Gly11del
XR_948432.1:n.1054+61703_1054+61714del
XM_011543600.2:c.22_33del	XP_011541902.1:p.Ser8_Gly11del
XM_011543602.3:c.22_33del	XP_011541904.1:p.Ser8_Gly11del
XM_011543603.3:c.22_33del	XP_011541905.1:p.Ser8_Gly11del
XM_017009787.1:c.22_33del	XP_016865276.1:p.Ser8_Gly11del
NM_017411.4:c.22_33del MANE Select	NP_059107.1:p.Ser8_Gly11del
NM_022875.3:c.22_33del	NP_075013.1:p.Ser8_Gly11del