Canonical Allele Identifier: CA2674142218

Gene: SMN2

Linked Data

• gnomAD v4: 5-70076432-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076432T>C , CM000667.2:g.70076432T>C	GRCh38
NC_000005.9:g.69372259T>C , CM000667.1:g.69372259T>C	GRCh37
NC_000005.8:g.69408015T>C	NCBI36
NG_008728.1:g.31910T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.835-89T>C MANE Select	ENSP00000370119.4:n.835-89T>C
ENST00000380741.8:c.835-89T>C	ENSP00000370117.5:n.835-89T>C
ENST00000380742.8:c.739-89T>C	ENSP00000370118.4:n.739-89T>C
ENST00000380743.8:c.835-89T>C	ENSP00000370119.4:n.835-89T>C
ENST00000505346.5:n.301-89T>C
ENST00000506734.5:c.*59-587T>C	ENSP00000424799.1:n.*59-587T>C
ENST00000507458.2:c.89-89T>C
ENST00000511812.5:c.634-89T>C	ENSP00000424282.1:n.634-89T>C
ENST00000514914.1:n.376-89T>C
ENST00000614240.4:c.739-89T>C	ENSP00000479279.1:n.739-89T>C
ENST00000626847.2:c.835-587T>C	ENSP00000486152.1:n.835-587T>C
NM_017411.3:c.835-89T>C	NP_059107.1:n.835-89T>C
NM_022875.2:c.835-587T>C	NP_075013.1:n.835-587T>C
NM_022876.2:c.739-89T>C	NP_075014.1:n.739-89T>C
NM_022877.2:c.739-587T>C	NP_075015.1:n.739-587T>C
XM_011543600.1:c.634-89T>C	XP_011541902.1:n.634-89T>C
XM_011543601.1:c.634-587T>C	XP_011541903.1:n.634-587T>C
XM_011543602.1:c.538-89T>C	XP_011541904.1:n.538-89T>C
XM_011543603.1:c.538-587T>C	XP_011541905.1:n.538-587T>C
XR_948432.1:n.1054+88428T>C
XM_011543600.2:c.634-89T>C	XP_011541902.1:n.634-89T>C
XM_011543602.3:c.538-89T>C	XP_011541904.1:n.538-89T>C
XM_011543603.3:c.538-587T>C	XP_011541905.1:n.538-587T>C
NM_017411.4:c.835-89T>C MANE Select	NP_059107.1:n.835-89T>C
NM_022875.3:c.835-587T>C	NP_075013.1:n.835-587T>C