Canonical Allele Identifier: CA1554040948
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1774423337
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049555G>C , CM000667.2:g.70049555G>C GRCh38
NC_000005.9:g.69345382G>C , CM000667.1:g.69345382G>C GRCh37
NC_000005.8:g.69381138G>C NCBI36
NG_008728.1:g.5033G>C

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-131G>C NP_059107.1:n.-131G>C
NM_022875.2:c.-131G>C NP_075013.1:n.-131G>C
NM_022876.2:c.-131G>C NP_075014.1:n.-131G>C
NM_022877.2:c.-131G>C NP_075015.1:n.-131G>C
XR_948432.1:n.1054+61551G>C
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