Canonical Allele Identifier: CA813569911
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1405955025
gnomAD v3: 5-70049556-A-G
gnomAD v4: 5-70049556-A-G
MyVariant Identifiers: chr5:g.69345383A>G (hg19) chr5:g.70049556A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049556A>G , CM000667.2:g.70049556A>G GRCh38
NC_000005.9:g.69345383A>G , CM000667.1:g.69345383A>G GRCh37
NC_000005.8:g.69381139A>G NCBI36
NG_008728.1:g.5034A>G

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-130A>G NP_059107.1:n.-130A>G
NM_022875.2:c.-130A>G NP_075013.1:n.-130A>G
NM_022876.2:c.-130A>G NP_075014.1:n.-130A>G
NM_022877.2:c.-130A>G NP_075015.1:n.-130A>G
XR_948432.1:n.1054+61552A>G
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