Canonical Allele Identifier: CA813576177

Gene: SMN2

Linked Data

• dbSNP Id: rs1197505215
• gnomAD v3: 5-70076686-G-C
• gnomAD v4: 5-70076686-G-C
• MyVariant Identifiers: chr5:g.69372513G>C (hg19) ; chr5:g.70076686G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076686G>C , CM000667.2:g.70076686G>C	GRCh38
NC_000005.9:g.69372513G>C , CM000667.1:g.69372513G>C	GRCh37
NC_000005.8:g.69408269G>C	NCBI36
NG_008728.1:g.32164G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+112G>C MANE Select	ENSP00000370119.4:n.*3+112G>C
ENST00000380742.8:c.*3+112G>C	ENSP00000370118.4:n.*3+112G>C
ENST00000380743.8:c.*3+112G>C	ENSP00000370119.4:n.*3+112G>C
ENST00000505346.5:n.466G>C
ENST00000506734.5:c.*59-333G>C	ENSP00000424799.1:n.*59-333G>C
ENST00000507458.2:c.142+112G>C
ENST00000511812.5:c.*115G>C	ENSP00000424282.1:n.*115G>C
ENST00000514914.1:n.429+112G>C
ENST00000626847.2:c.835-333G>C	ENSP00000486152.1:n.835-333G>C
NM_017411.3:c.*3+112G>C	NP_059107.1:n.*3+112G>C
NM_022875.2:c.835-333G>C	NP_075013.1:n.835-333G>C
NM_022876.2:c.*3+112G>C	NP_075014.1:n.*3+112G>C
NM_022877.2:c.739-333G>C	NP_075015.1:n.739-333G>C
XM_011543600.1:c.*3+112G>C	XP_011541902.1:n.*3+112G>C
XM_011543601.1:c.634-333G>C	XP_011541903.1:n.634-333G>C
XM_011543602.1:c.*3+112G>C	XP_011541904.1:n.*3+112G>C
XM_011543603.1:c.538-333G>C	XP_011541905.1:n.538-333G>C
XR_948432.1:n.1054+88682G>C
XM_011543600.2:c.*3+112G>C	XP_011541902.1:n.*3+112G>C
XM_011543602.3:c.*3+112G>C	XP_011541904.1:n.*3+112G>C
XM_011543603.3:c.538-333G>C	XP_011541905.1:n.538-333G>C
NM_017411.4:c.*3+112G>C MANE Select	NP_059107.1:n.*3+112G>C
NM_022875.3:c.835-333G>C	NP_075013.1:n.835-333G>C