Canonical Allele Identifier: CA120719405
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs943651520
gnomAD v2: 5-69345402-C-G
gnomAD v3: 5-70049575-C-G
gnomAD v4: 5-70049575-C-G
MyVariant Identifiers: chr5:g.69345402C>G (hg19) chr5:g.70049575C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049575C>G , CM000667.2:g.70049575C>G GRCh38
NC_000005.9:g.69345402C>G , CM000667.1:g.69345402C>G GRCh37
NC_000005.8:g.69381158C>G NCBI36
NG_008728.1:g.5053C>G

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-111C>G NP_059107.1:n.-111C>G
NM_022875.2:c.-111C>G NP_075013.1:n.-111C>G
NM_022876.2:c.-111C>G NP_075014.1:n.-111C>G
NM_022877.2:c.-111C>G NP_075015.1:n.-111C>G
XR_948432.1:n.1054+61571C>G
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