Canonical Allele Identifier: CA360086496

Gene: SMN2

Linked Data

• gnomAD v3: 5-70070718-G-T
• gnomAD v4: 5-70070718-G-T
• MyVariant Identifiers: chr5:g.69366545G>T (hg19) ; chr5:g.70070718G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070718G>T , CM000667.2:g.70070718G>T	GRCh38
NC_000005.9:g.69366545G>T , CM000667.1:g.69366545G>T	GRCh37
NC_000005.8:g.69402301G>T	NCBI36
NG_008728.1:g.26196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.801G>T MANE Select	ENSP00000370119.4:p.Trp267Cys
ENST00000638794.1:c.801G>T	ENSP00000492675.1:p.Trp267Cys
ENST00000380741.8:c.801G>T	ENSP00000370117.5:p.Trp267Cys
ENST00000380742.8:c.705G>T	ENSP00000370118.4:p.Trp235Cys
ENST00000380743.8:c.801G>T	ENSP00000370119.4:p.Trp267Cys
ENST00000503678.5:n.724G>T
ENST00000505346.5:n.267G>T
ENST00000506734.5:c.801G>T	ENSP00000424799.1:p.Trp267Cys
ENST00000507458.2:c.55G>T
ENST00000508258.1:n.176G>T
ENST00000509805.5:n.368G>T
ENST00000511812.5:c.600G>T	ENSP00000424282.1:p.Trp200Cys
ENST00000514914.1:n.342G>T
ENST00000614240.4:c.705G>T	ENSP00000479279.1:p.Trp235Cys
ENST00000626847.2:c.801G>T	ENSP00000486152.1:p.Trp267Cys
ENST00000628696.2:c.801G>T	ENSP00000486268.1:p.Trp267Cys
NM_017411.3:c.801G>T	NP_059107.1:p.Trp267Cys
NM_022875.2:c.801G>T	NP_075013.1:p.Trp267Cys
NM_022876.2:c.705G>T	NP_075014.1:p.Trp235Cys
NM_022877.2:c.705G>T	NP_075015.1:p.Trp235Cys
XM_011543599.1:c.801G>T	XP_011541901.1:p.Trp267Cys
XM_011543600.1:c.600G>T	XP_011541902.1:p.Trp200Cys
XM_011543601.1:c.600G>T	XP_011541903.1:p.Trp200Cys
XM_011543602.1:c.504G>T	XP_011541904.1:p.Trp168Cys
XM_011543603.1:c.504G>T	XP_011541905.1:p.Trp168Cys
XR_948432.1:n.1054+82714G>T
XM_011543600.2:c.600G>T	XP_011541902.1:p.Trp200Cys
XM_011543602.3:c.504G>T	XP_011541904.1:p.Trp168Cys
XM_011543603.3:c.504G>T	XP_011541905.1:p.Trp168Cys
XM_017009787.1:c.801G>T	XP_016865276.1:p.Trp267Cys
NM_017411.4:c.801G>T MANE Select	NP_059107.1:p.Trp267Cys
NM_022875.3:c.801G>T	NP_075013.1:p.Trp267Cys