Canonical Allele Identifier: CA813569900

Gene: SMN2

Linked Data

• dbSNP Id: rs1300208261
• gnomAD v3: 5-70049552-G-C
• gnomAD v4: 5-70049552-G-C
• MyVariant Identifiers: chr5:g.69345379G>C (hg19) ; chr5:g.70049552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049552G>C , CM000667.2:g.70049552G>C	GRCh38
NC_000005.9:g.69345379G>C , CM000667.1:g.69345379G>C	GRCh37
NC_000005.8:g.69381135G>C	NCBI36
NG_008728.1:g.5030G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.3:c.-134G>C	NP_059107.1:n.-134G>C
NM_022875.2:c.-134G>C	NP_075013.1:n.-134G>C
NM_022876.2:c.-134G>C	NP_075014.1:n.-134G>C
NM_022877.2:c.-134G>C	NP_075015.1:n.-134G>C
XR_948432.1:n.1054+61548G>C