Canonical Allele Identifier: CA1077260000

Gene: SMN2

Linked Data

• dbSNP Id: rs1774423024
• gnomAD v3: 5-70049551-C-G
• gnomAD v4: 5-70049551-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049551C>G , CM000667.2:g.70049551C>G	GRCh38
NC_000005.9:g.69345378C>G , CM000667.1:g.69345378C>G	GRCh37
NC_000005.8:g.69381134C>G	NCBI36
NG_008728.1:g.5029C>G

Transcript Alleles

HGVS	Amino-acid change
NM_017411.3:c.-135C>G	NP_059107.1:n.-135C>G
NM_022875.2:c.-135C>G	NP_075013.1:n.-135C>G
NM_022876.2:c.-135C>G	NP_075014.1:n.-135C>G
NM_022877.2:c.-135C>G	NP_075015.1:n.-135C>G
XR_948432.1:n.1054+61547C>G