Canonical Allele Identifier: CA360086546

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070737A>T , CM000667.2:g.70070737A>T	GRCh38
NC_000005.9:g.69366564A>T , CM000667.1:g.69366564A>T	GRCh37
NC_000005.8:g.69402320A>T	NCBI36
NG_008728.1:g.26215A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.4:c.820A>T MANE Select	NP_059107.1:p.Thr274Ser
ENST00000380743.9:c.820A>T MANE Select	ENSP00000370119.4:p.Thr274Ser
NM_017411.3:c.820A>T	NP_059107.1:p.Thr274Ser
NM_022875.2:c.820A>T	NP_075013.1:p.Thr274Ser
NM_022875.3:c.820A>T	NP_075013.1:p.Thr274Ser
NM_022876.2:c.724A>T	NP_075014.1:p.Thr242Ser
NM_022877.2:c.724A>T	NP_075015.1:p.Thr242Ser
ENST00000380741.8:c.820A>T	ENSP00000370117.5:p.Thr274Ser
ENST00000380742.8:c.724A>T	ENSP00000370118.4:p.Thr242Ser
ENST00000380743.8:c.820A>T	ENSP00000370119.4:p.Thr274Ser
ENST00000503678.5:n.743A>T
ENST00000505346.5:n.286A>T
ENST00000506734.5:c.820A>T	ENSP00000424799.1:p.Thr274Ser
ENST00000507458.2:c.74A>T
ENST00000508258.1:n.195A>T
ENST00000509805.5:n.387A>T
ENST00000511812.5:c.619A>T	ENSP00000424282.1:p.Thr207Ser
ENST00000514914.1:n.361A>T
ENST00000614240.4:c.724A>T	ENSP00000479279.1:p.Thr242Ser
ENST00000626847.2:c.820A>T	ENSP00000486152.1:p.Thr274Ser
ENST00000628696.2:c.820A>T	ENSP00000486268.1:p.Thr274Ser
ENST00000638794.1:c.820A>T	ENSP00000492675.1:p.Thr274Ser
XM_011543599.1:c.820A>T	XP_011541901.1:p.Thr274Ser
XM_011543600.1:c.619A>T	XP_011541902.1:p.Thr207Ser
XM_011543600.2:c.619A>T	XP_011541902.1:p.Thr207Ser
XM_011543601.1:c.619A>T	XP_011541903.1:p.Thr207Ser
XM_011543602.1:c.523A>T	XP_011541904.1:p.Thr175Ser
XM_011543602.3:c.523A>T	XP_011541904.1:p.Thr175Ser
XM_011543603.1:c.523A>T	XP_011541905.1:p.Thr175Ser
XM_011543603.3:c.523A>T	XP_011541905.1:p.Thr175Ser
XM_017009787.1:c.820A>T	XP_016865276.1:p.Thr274Ser
XR_948432.1:n.1054+82733A>T