Canonical Allele Identifier: CA813569980

Gene: SMN2

Linked Data

• dbSNP Id: rs925631643
• gnomAD v3: 5-70049638-A-C
• gnomAD v4: 5-70049638-A-C
• MyVariant Identifiers: chr5:g.69345465A>C (hg19) ; chr5:g.70049638A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049638A>C , CM000667.2:g.70049638A>C	GRCh38
NC_000005.9:g.69345465A>C , CM000667.1:g.69345465A>C	GRCh37
NC_000005.8:g.69381221A>C	NCBI36
NG_008728.1:g.5116A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-48A>C	ENSP00000370119.4:n.-48A>C
ENST00000511812.5:c.-48A>C	ENSP00000424282.1:n.-48A>C
NM_017411.3:c.-48A>C	NP_059107.1:n.-48A>C
NM_022875.2:c.-48A>C	NP_075013.1:n.-48A>C
NM_022876.2:c.-48A>C	NP_075014.1:n.-48A>C
NM_022877.2:c.-48A>C	NP_075015.1:n.-48A>C
XM_011543600.1:c.-48A>C	XP_011541902.1:n.-48A>C
XM_011543601.1:c.-48A>C	XP_011541903.1:n.-48A>C
XM_011543602.1:c.-48A>C	XP_011541904.1:n.-48A>C
XM_011543603.1:c.-48A>C	XP_011541905.1:n.-48A>C
XR_948432.1:n.1054+61634A>C
XM_011543600.2:c.-48A>C	XP_011541902.1:n.-48A>C
XM_011543602.3:c.-48A>C	XP_011541904.1:n.-48A>C
XM_011543603.3:c.-48A>C	XP_011541905.1:n.-48A>C