Canonical Allele Identifier: CA2766887526

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070652dup , CM000667.2:g.70070652dup	GRCh38
NC_000005.9:g.69366479dup , CM000667.1:g.69366479dup	GRCh37
NC_000005.8:g.69402235dup	NCBI36
NG_008728.1:g.26130dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.735dup MANE Select	ENSP00000370119.4:p.Pro246ThrfsTer10
ENST00000638794.1:c.735dup	ENSP00000492675.1:p.Pro246ThrfsTer10
ENST00000380741.8:c.735dup	ENSP00000370117.5:p.Pro246ThrfsTer10
ENST00000380742.8:c.639dup	ENSP00000370118.4:p.Pro214ThrfsTer10
ENST00000380743.8:c.735dup	ENSP00000370119.4:p.Pro246ThrfsTer10
ENST00000503678.5:n.658dup
ENST00000505346.5:n.201dup
ENST00000506734.5:c.735dup	ENSP00000424799.1:p.Pro246ThrfsTer10
ENST00000508258.1:n.110dup
ENST00000509805.5:n.302dup
ENST00000511812.5:c.534dup	ENSP00000424282.1:p.Pro179ThrfsTer10
ENST00000511873.6:c.429dup	ENSP00000475824.1:n.429dup
ENST00000514914.1:n.276dup
ENST00000614240.4:c.639dup	ENSP00000479279.1:p.Pro214ThrfsTer10
ENST00000626847.2:c.735dup	ENSP00000486152.1:p.Pro246ThrfsTer10
ENST00000628696.2:c.735dup	ENSP00000486268.1:p.Pro246ThrfsTer10
NM_017411.3:c.735dup	NP_059107.1:p.Pro246ThrfsTer10
NM_022875.2:c.735dup	NP_075013.1:p.Pro246ThrfsTer10
NM_022876.2:c.639dup	NP_075014.1:p.Pro214ThrfsTer10
NM_022877.2:c.639dup	NP_075015.1:p.Pro214ThrfsTer10
XM_011543599.1:c.735dup	XP_011541901.1:p.Pro246ThrfsTer10
XM_011543600.1:c.534dup	XP_011541902.1:p.Pro179ThrfsTer10
XM_011543601.1:c.534dup	XP_011541903.1:p.Pro179ThrfsTer10
XM_011543602.1:c.438dup	XP_011541904.1:p.Pro147ThrfsTer10
XM_011543603.1:c.438dup	XP_011541905.1:p.Pro147ThrfsTer10
XR_948432.1:n.1054+82648dup
XM_011543600.2:c.534dup	XP_011541902.1:p.Pro179ThrfsTer10
XM_011543602.3:c.438dup	XP_011541904.1:p.Pro147ThrfsTer10
XM_011543603.3:c.438dup	XP_011541905.1:p.Pro147ThrfsTer10
XM_017009787.1:c.735dup	XP_016865276.1:p.Pro246ThrfsTer10
NM_017411.4:c.735dup MANE Select	NP_059107.1:p.Pro246ThrfsTer10
NM_022875.3:c.735dup	NP_075013.1:p.Pro246ThrfsTer10