Canonical Allele Identifier: CA813569939

Gene: SMN2

Linked Data

• dbSNP Id: rs1283480206
• MyVariant Identifiers: chr5:g.69345410C>G (hg19) ; chr5:g.70049583C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049583C>G , CM000667.2:g.70049583C>G	GRCh38
NC_000005.9:g.69345410C>G , CM000667.1:g.69345410C>G	GRCh37
NC_000005.8:g.69381166C>G	NCBI36
NG_008728.1:g.5061C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.3:c.-103C>G	NP_059107.1:n.-103C>G
NM_022875.2:c.-103C>G	NP_075013.1:n.-103C>G
NM_022876.2:c.-103C>G	NP_075014.1:n.-103C>G
NM_022877.2:c.-103C>G	NP_075015.1:n.-103C>G
XR_948432.1:n.1054+61579C>G