Canonical Allele Identifier: CA1077259977

Gene: SMN2

Linked Data

• dbSNP Id: rs1774422600
• gnomAD v3: 5-70049540-C-A
• gnomAD v4: 5-70049540-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049540C>A , CM000667.2:g.70049540C>A	GRCh38
NC_000005.9:g.69345367C>A , CM000667.1:g.69345367C>A	GRCh37
NC_000005.8:g.69381123C>A	NCBI36
NG_008728.1:g.5018C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.3:c.-146C>A	NP_059107.1:n.-146C>A
NM_022875.2:c.-146C>A	NP_075013.1:n.-146C>A
NM_022876.2:c.-146C>A	NP_075014.1:n.-146C>A
NM_022877.2:c.-146C>A	NP_075015.1:n.-146C>A
XR_948432.1:n.1054+61536C>A