Canonical Allele Identifier: CA120719600

Gene: SMN2

Linked Data

• dbSNP Id: rs545800399
• gnomAD v3: 5-70076619-C-T
• gnomAD v4: 5-70076619-C-T
• MyVariant Identifiers: chr5:g.69372446C>T (hg19) ; chr5:g.70076619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076619C>T , CM000667.2:g.70076619C>T	GRCh38
NC_000005.9:g.69372446C>T , CM000667.1:g.69372446C>T	GRCh37
NC_000005.8:g.69408202C>T	NCBI36
NG_008728.1:g.32097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+45C>T MANE Select	ENSP00000370119.4:n.*3+45C>T
ENST00000380742.8:c.*3+45C>T	ENSP00000370118.4:n.*3+45C>T
ENST00000380743.8:c.*3+45C>T	ENSP00000370119.4:n.*3+45C>T
ENST00000505346.5:n.399C>T
ENST00000506734.5:c.*59-400C>T	ENSP00000424799.1:n.*59-400C>T
ENST00000507458.2:c.142+45C>T
ENST00000511812.5:c.*48C>T	ENSP00000424282.1:n.*48C>T
ENST00000514914.1:n.429+45C>T
ENST00000626847.2:c.835-400C>T	ENSP00000486152.1:n.835-400C>T
NM_017411.3:c.*3+45C>T	NP_059107.1:n.*3+45C>T
NM_022875.2:c.835-400C>T	NP_075013.1:n.835-400C>T
NM_022876.2:c.*3+45C>T	NP_075014.1:n.*3+45C>T
NM_022877.2:c.739-400C>T	NP_075015.1:n.739-400C>T
XM_011543600.1:c.*3+45C>T	XP_011541902.1:n.*3+45C>T
XM_011543601.1:c.634-400C>T	XP_011541903.1:n.634-400C>T
XM_011543602.1:c.*3+45C>T	XP_011541904.1:n.*3+45C>T
XM_011543603.1:c.538-400C>T	XP_011541905.1:n.538-400C>T
XR_948432.1:n.1054+88615C>T
XM_011543600.2:c.*3+45C>T	XP_011541902.1:n.*3+45C>T
XM_011543602.3:c.*3+45C>T	XP_011541904.1:n.*3+45C>T
XM_011543603.3:c.538-400C>T	XP_011541905.1:n.538-400C>T
NM_017411.4:c.*3+45C>T MANE Select	NP_059107.1:n.*3+45C>T
NM_022875.3:c.835-400C>T	NP_075013.1:n.835-400C>T