Canonical Allele Identifier: CA2569476781
Gene: SMN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049588C>A , CM000667.2:g.70049588C>A GRCh38
NC_000005.9:g.69345415C>A , CM000667.1:g.69345415C>A GRCh37
NC_000005.8:g.69381171C>A NCBI36
NG_008728.1:g.5066C>A

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-98C>A NP_059107.1:n.-98C>A
NM_022875.2:c.-98C>A NP_075013.1:n.-98C>A
NM_022876.2:c.-98C>A NP_075014.1:n.-98C>A
NM_022877.2:c.-98C>A NP_075015.1:n.-98C>A
XR_948432.1:n.1054+61584C>A
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