Canonical Allele Identifier: CA560269414
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1300032220
gnomAD v2: 5-69345399-C-T
gnomAD v3: 5-70049572-C-T
gnomAD v4: 5-70049572-C-T
MyVariant Identifiers: chr5:g.69345399C>T (hg19) chr5:g.70049572C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049572C>T , CM000667.2:g.70049572C>T GRCh38
NC_000005.9:g.69345399C>T , CM000667.1:g.69345399C>T GRCh37
NC_000005.8:g.69381155C>T NCBI36
NG_008728.1:g.5050C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-114C>T NP_059107.1:n.-114C>T
NM_022875.2:c.-114C>T NP_075013.1:n.-114C>T
NM_022876.2:c.-114C>T NP_075014.1:n.-114C>T
NM_022877.2:c.-114C>T NP_075015.1:n.-114C>T
XR_948432.1:n.1054+61568C>T
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