Canonical Allele Identifier: CA813569960
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1313548390
gnomAD v3: 5-70049608-T-C
gnomAD v4: 5-70049608-T-C
MyVariant Identifiers: chr5:g.69345435T>C (hg19) chr5:g.70049608T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049608T>C , CM000667.2:g.70049608T>C GRCh38
NC_000005.9:g.69345435T>C , CM000667.1:g.69345435T>C GRCh37
NC_000005.8:g.69381191T>C NCBI36
NG_008728.1:g.5086T>C

Transcript Alleles

HGVS Amino-acid change
NM_017411.3:c.-78T>C NP_059107.1:n.-78T>C
NM_022875.2:c.-78T>C NP_075013.1:n.-78T>C
NM_022876.2:c.-78T>C NP_075014.1:n.-78T>C
NM_022877.2:c.-78T>C NP_075015.1:n.-78T>C
XR_948432.1:n.1054+61604T>C
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