Canonical Allele Identifier: CA2709087978

Gene: SMN2

Linked Data

• dbSNP Id: rs1226152846

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049548A>G , CM000667.2:g.70049548A>G	GRCh38
NC_000005.9:g.69345375A>G , CM000667.1:g.69345375A>G	GRCh37
NC_000005.8:g.69381131A>G	NCBI36
NG_008728.1:g.5026A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.3:c.-138A>G	NP_059107.1:n.-138A>G
NM_022875.2:c.-138A>G	NP_075013.1:n.-138A>G
NM_022876.2:c.-138A>G	NP_075014.1:n.-138A>G
NM_022877.2:c.-138A>G	NP_075015.1:n.-138A>G
XR_948432.1:n.1054+61544A>G