Canonical Allele Identifier: CA2766889326

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049593A>C , CM000667.2:g.70049593A>C	GRCh38
NC_000005.9:g.69345420A>C , CM000667.1:g.69345420A>C	GRCh37
NC_000005.8:g.69381176A>C	NCBI36
NG_008728.1:g.5071A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.3:c.-93A>C	NP_059107.1:n.-93A>C
NM_022875.2:c.-93A>C	NP_075013.1:n.-93A>C
NM_022876.2:c.-93A>C	NP_075014.1:n.-93A>C
NM_022877.2:c.-93A>C	NP_075015.1:n.-93A>C
XR_948432.1:n.1054+61589A>C