Canonical Allele Identifier: CA560269409
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1344475912
gnomAD v2: 5-69345361-G-A
gnomAD v3: 5-70049534-G-A
gnomAD v4: 5-70049534-G-A
MyVariant Identifiers: chr5:g.69345361G>A (hg19) chr5:g.70049534G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049534G>A , CM000667.2:g.70049534G>A GRCh38
NC_000005.9:g.69345361G>A , CM000667.1:g.69345361G>A GRCh37
NC_000005.8:g.69381117G>A NCBI36
NG_008728.1:g.5012G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-152G>A NP_059107.1:n.-152G>A
NM_022875.2:c.-152G>A NP_075013.1:n.-152G>A
NM_022876.2:c.-152G>A NP_075014.1:n.-152G>A
NM_022877.2:c.-152G>A NP_075015.1:n.-152G>A
XR_948432.1:n.1054+61530G>A
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