Canonical Allele Identifier: CA813569918

Gene: SMN2

Linked Data

• dbSNP Id: rs1335376592
• MyVariant Identifiers: chr5:g.69345388G>A (hg19) ; chr5:g.70049561G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049561G>A , CM000667.2:g.70049561G>A	GRCh38
NC_000005.9:g.69345388G>A , CM000667.1:g.69345388G>A	GRCh37
NC_000005.8:g.69381144G>A	NCBI36
NG_008728.1:g.5039G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.3:c.-125G>A	NP_059107.1:n.-125G>A
NM_022875.2:c.-125G>A	NP_075013.1:n.-125G>A
NM_022876.2:c.-125G>A	NP_075014.1:n.-125G>A
NM_022877.2:c.-125G>A	NP_075015.1:n.-125G>A
XR_948432.1:n.1054+61557G>A