Canonical Allele Identifier: CA120719406
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1042726946
gnomAD v3: 5-70049621-G-A
gnomAD v4: 5-70049621-G-A
MyVariant Identifiers: chr5:g.69345448G>A (hg19) chr5:g.70049621G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049621G>A , CM000667.2:g.70049621G>A GRCh38
NC_000005.9:g.69345448G>A , CM000667.1:g.69345448G>A GRCh37
NC_000005.8:g.69381204G>A NCBI36
NG_008728.1:g.5099G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380743.8:c.-65G>A ENSP00000370119.4:n.-65G>A
NM_017411.3:c.-65G>A NP_059107.1:n.-65G>A
NM_022875.2:c.-65G>A NP_075013.1:n.-65G>A
NM_022876.2:c.-65G>A NP_075014.1:n.-65G>A
NM_022877.2:c.-65G>A NP_075015.1:n.-65G>A
XR_948432.1:n.1054+61617G>A
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