Canonical Allele Identifier: CA1554040968
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1580724542
gnomAD v4: 5-70049588-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049588C>T , CM000667.2:g.70049588C>T GRCh38
NC_000005.9:g.69345415C>T , CM000667.1:g.69345415C>T GRCh37
NC_000005.8:g.69381171C>T NCBI36
NG_008728.1:g.5066C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-98C>T NP_059107.1:n.-98C>T
NM_022875.2:c.-98C>T NP_075013.1:n.-98C>T
NM_022876.2:c.-98C>T NP_075014.1:n.-98C>T
NM_022877.2:c.-98C>T NP_075015.1:n.-98C>T
XR_948432.1:n.1054+61584C>T
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