Canonical Allele Identifier: CA1077259958

Gene: SMN2

Linked Data

• dbSNP Id: rs1774422512
• gnomAD v3: 5-70049538-G-A
• gnomAD v4: 5-70049538-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049538G>A , CM000667.2:g.70049538G>A	GRCh38
NC_000005.9:g.69345365G>A , CM000667.1:g.69345365G>A	GRCh37
NC_000005.8:g.69381121G>A	NCBI36
NG_008728.1:g.5016G>A

Transcript Alleles

HGVS	Amino-acid change
NM_017411.3:c.-148G>A	NP_059107.1:n.-148G>A
NM_022875.2:c.-148G>A	NP_075013.1:n.-148G>A
NM_022876.2:c.-148G>A	NP_075014.1:n.-148G>A
NM_022877.2:c.-148G>A	NP_075015.1:n.-148G>A
XR_948432.1:n.1054+61534G>A