Canonical Allele Identifier: CA2674141852
Gene: SMN2 HGNC NCBI

Linked Data

gnomAD v4: 5-70049634-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049634C>A , CM000667.2:g.70049634C>A GRCh38
NC_000005.9:g.69345461C>A , CM000667.1:g.69345461C>A GRCh37
NC_000005.8:g.69381217C>A NCBI36
NG_008728.1:g.5112C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380743.8:c.-52C>A ENSP00000370119.4:n.-52C>A
NM_017411.3:c.-52C>A NP_059107.1:n.-52C>A
NM_022875.2:c.-52C>A NP_075013.1:n.-52C>A
NM_022876.2:c.-52C>A NP_075014.1:n.-52C>A
NM_022877.2:c.-52C>A NP_075015.1:n.-52C>A
XM_011543602.1:c.-52C>A XP_011541904.1:n.-52C>A
XM_011543603.1:c.-52C>A XP_011541905.1:n.-52C>A
XR_948432.1:n.1054+61630C>A
XM_011543602.3:c.-52C>A XP_011541904.1:n.-52C>A
XM_011543603.3:c.-52C>A XP_011541905.1:n.-52C>A
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