Canonical Allele Identifier: CA2674141863

Gene: SMN2

Linked Data

• gnomAD v4: 5-70049653-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049656_70049657del , CM000667.2:g.70049656_70049657del	GRCh38
NC_000005.9:g.69345483_69345484del , CM000667.1:g.69345483_69345484del	GRCh37
NC_000005.8:g.69381239_69381240del	NCBI36
NG_008728.1:g.5134_5135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-30_-29del	ENSP00000370119.4:n.-30_-29del
ENST00000511812.5:c.-30_-29del	ENSP00000424282.1:n.-30_-29del
ENST00000626847.2:c.-30_-29del	ENSP00000486152.1:n.-30_-29del
NM_017411.3:c.-30_-29del	NP_059107.1:n.-30_-29del
NM_022875.2:c.-30_-29del	NP_075013.1:n.-30_-29del
NM_022876.2:c.-30_-29del	NP_075014.1:n.-30_-29del
NM_022877.2:c.-30_-29del	NP_075015.1:n.-30_-29del
XM_011543599.1:c.-30_-29del	XP_011541901.1:n.-30_-29del
XM_011543600.1:c.-30_-29del	XP_011541902.1:n.-30_-29del
XM_011543601.1:c.-30_-29del	XP_011541903.1:n.-30_-29del
XM_011543602.1:c.-30_-29del	XP_011541904.1:n.-30_-29del
XM_011543603.1:c.-30_-29del	XP_011541905.1:n.-30_-29del
XR_948432.1:n.1054+61652_1054+61653del
XM_011543600.2:c.-30_-29del	XP_011541902.1:n.-30_-29del
XM_011543602.3:c.-30_-29del	XP_011541904.1:n.-30_-29del
XM_011543603.3:c.-30_-29del	XP_011541905.1:n.-30_-29del
XM_017009787.1:c.-30_-29del	XP_016865276.1:n.-30_-29del