Canonical Allele Identifier: CA2674142403

Gene: SMN2

Linked Data

• gnomAD v4: 5-70076750-T-TACATCCCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076751_70076759dup , CM000667.2:g.70076751_70076759dup	GRCh38
NC_000005.9:g.69372578_69372586dup , CM000667.1:g.69372578_69372586dup	GRCh37
NC_000005.8:g.69408334_69408342dup	NCBI36
NG_008728.1:g.32229_32237dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+177_*3+185dup MANE Select	ENSP00000370119.4:n.*3+177_*3+185dup
ENST00000380742.8:c.*3+177_*3+185dup	ENSP00000370118.4:n.*3+177_*3+185dup
ENST00000380743.8:c.*3+177_*3+185dup	ENSP00000370119.4:n.*3+177_*3+185dup
ENST00000505346.5:n.531_539dup
ENST00000506734.5:c.*59-268_*59-260dup	ENSP00000424799.1:n.*59-268_*59-260dup
ENST00000507458.2:c.142+177_142+185dup
ENST00000514914.1:n.429+177_429+185dup
ENST00000626847.2:c.835-268_835-260dup	ENSP00000486152.1:n.835-268_835-260dup
NM_017411.3:c.*3+177_*3+185dup	NP_059107.1:n.*3+177_*3+185dup
NM_022875.2:c.835-268_835-260dup	NP_075013.1:n.835-268_835-260dup
NM_022876.2:c.*3+177_*3+185dup	NP_075014.1:n.*3+177_*3+185dup
NM_022877.2:c.739-268_739-260dup	NP_075015.1:n.739-268_739-260dup
XM_011543600.1:c.*3+177_*3+185dup	XP_011541902.1:n.*3+177_*3+185dup
XM_011543601.1:c.634-268_634-260dup	XP_011541903.1:n.634-268_634-260dup
XM_011543602.1:c.*3+177_*3+185dup	XP_011541904.1:n.*3+177_*3+185dup
XM_011543603.1:c.538-268_538-260dup	XP_011541905.1:n.538-268_538-260dup
XR_948432.1:n.1054+88747_1054+88755dup
XM_011543600.2:c.*3+177_*3+185dup	XP_011541902.1:n.*3+177_*3+185dup
XM_011543602.3:c.*3+177_*3+185dup	XP_011541904.1:n.*3+177_*3+185dup
XM_011543603.3:c.538-268_538-260dup	XP_011541905.1:n.538-268_538-260dup
NM_017411.4:c.*3+177_*3+185dup MANE Select	NP_059107.1:n.*3+177_*3+185dup
NM_022875.3:c.835-268_835-260dup	NP_075013.1:n.835-268_835-260dup