Canonical Allele Identifier: CA2599081109
Gene: SMN2 HGNC NCBI

Linked Data

gnomAD v3: 5-70049529-A-C
gnomAD v4: 5-70049529-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049529A>C , CM000667.2:g.70049529A>C GRCh38
NC_000005.9:g.69345356A>C , CM000667.1:g.69345356A>C GRCh37
NC_000005.8:g.69381112A>C NCBI36
NG_008728.1:g.5007A>C

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-157A>C NP_059107.1:n.-157A>C
NM_022875.2:c.-157A>C NP_075013.1:n.-157A>C
NM_022876.2:c.-157A>C NP_075014.1:n.-157A>C
NM_022877.2:c.-157A>C NP_075015.1:n.-157A>C
XR_948432.1:n.1054+61525A>C
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