Canonical Allele Identifier: CA560269429

Gene: SMN2

Linked Data

• dbSNP Id: rs1317964099
• gnomAD v2: 5-69345446-C-G
• gnomAD v3: 5-70049619-C-G
• gnomAD v4: 5-70049619-C-G
• MyVariant Identifiers: chr5:g.69345446C>G (hg19) ; chr5:g.70049619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049619C>G , CM000667.2:g.70049619C>G	GRCh38
NC_000005.9:g.69345446C>G , CM000667.1:g.69345446C>G	GRCh37
NC_000005.8:g.69381202C>G	NCBI36
NG_008728.1:g.5097C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-67C>G	ENSP00000370119.4:n.-67C>G
NM_017411.3:c.-67C>G	NP_059107.1:n.-67C>G
NM_022875.2:c.-67C>G	NP_075013.1:n.-67C>G
NM_022876.2:c.-67C>G	NP_075014.1:n.-67C>G
NM_022877.2:c.-67C>G	NP_075015.1:n.-67C>G
XR_948432.1:n.1054+61615C>G