Canonical Allele Identifier: CA813569934

Gene: SMN2

Linked Data

• dbSNP Id: rs1449906399
• MyVariant Identifiers: chr5:g.69345404A>C (hg19) ; chr5:g.70049577A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049577A>C , CM000667.2:g.70049577A>C	GRCh38
NC_000005.9:g.69345404A>C , CM000667.1:g.69345404A>C	GRCh37
NC_000005.8:g.69381160A>C	NCBI36
NG_008728.1:g.5055A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.3:c.-109A>C	NP_059107.1:n.-109A>C
NM_022875.2:c.-109A>C	NP_075013.1:n.-109A>C
NM_022876.2:c.-109A>C	NP_075014.1:n.-109A>C
NM_022877.2:c.-109A>C	NP_075015.1:n.-109A>C
XR_948432.1:n.1054+61573A>C