Canonical Allele Identifier: CA813569903
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1300208261
MyVariant Identifiers: chr5:g.69345379G>A (hg19) chr5:g.70049552G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049552G>A , CM000667.2:g.70049552G>A GRCh38
NC_000005.9:g.69345379G>A , CM000667.1:g.69345379G>A GRCh37
NC_000005.8:g.69381135G>A NCBI36
NG_008728.1:g.5030G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-134G>A NP_059107.1:n.-134G>A
NM_022875.2:c.-134G>A NP_075013.1:n.-134G>A
NM_022876.2:c.-134G>A NP_075014.1:n.-134G>A
NM_022877.2:c.-134G>A NP_075015.1:n.-134G>A
XR_948432.1:n.1054+61548G>A
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