Canonical Allele Identifier: CA1077260032
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1181753373
gnomAD v3: 5-70049580-G-A
gnomAD v4: 5-70049580-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049580G>A , CM000667.2:g.70049580G>A GRCh38
NC_000005.9:g.69345407G>A , CM000667.1:g.69345407G>A GRCh37
NC_000005.8:g.69381163G>A NCBI36
NG_008728.1:g.5058G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017411.3:c.-106G>A NP_059107.1:n.-106G>A
NM_022875.2:c.-106G>A NP_075013.1:n.-106G>A
NM_022876.2:c.-106G>A NP_075014.1:n.-106G>A
NM_022877.2:c.-106G>A NP_075015.1:n.-106G>A
XR_948432.1:n.1054+61576G>A
Search 100 bp 5'
Search 100 bp 3'