Canonical Allele Identifier: CA560269431
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1216546611
gnomAD v2: 5-69345462-G-A
gnomAD v3: 5-70049635-G-A
gnomAD v4: 5-70049635-G-A
MyVariant Identifiers: chr5:g.69345462G>A (hg19) chr5:g.70049635G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049635G>A , CM000667.2:g.70049635G>A GRCh38
NC_000005.9:g.69345462G>A , CM000667.1:g.69345462G>A GRCh37
NC_000005.8:g.69381218G>A NCBI36
NG_008728.1:g.5113G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380743.8:c.-51G>A ENSP00000370119.4:n.-51G>A
NM_017411.3:c.-51G>A NP_059107.1:n.-51G>A
NM_022875.2:c.-51G>A NP_075013.1:n.-51G>A
NM_022876.2:c.-51G>A NP_075014.1:n.-51G>A
NM_022877.2:c.-51G>A NP_075015.1:n.-51G>A
XM_011543602.1:c.-51G>A XP_011541904.1:n.-51G>A
XM_011543603.1:c.-51G>A XP_011541905.1:n.-51G>A
XR_948432.1:n.1054+61631G>A
XM_011543602.3:c.-51G>A XP_011541904.1:n.-51G>A
XM_011543603.3:c.-51G>A XP_011541905.1:n.-51G>A
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