Canonical Allele Identifier: CA2674141854

Gene: SMN2

Linked Data

• gnomAD v4: 5-70049637-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049637C>G , CM000667.2:g.70049637C>G	GRCh38
NC_000005.9:g.69345464C>G , CM000667.1:g.69345464C>G	GRCh37
NC_000005.8:g.69381220C>G	NCBI36
NG_008728.1:g.5115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-49C>G	ENSP00000370119.4:n.-49C>G
NM_017411.3:c.-49C>G	NP_059107.1:n.-49C>G
NM_022875.2:c.-49C>G	NP_075013.1:n.-49C>G
NM_022876.2:c.-49C>G	NP_075014.1:n.-49C>G
NM_022877.2:c.-49C>G	NP_075015.1:n.-49C>G
XM_011543602.1:c.-49C>G	XP_011541904.1:n.-49C>G
XM_011543603.1:c.-49C>G	XP_011541905.1:n.-49C>G
XR_948432.1:n.1054+61633C>G
XM_011543602.3:c.-49C>G	XP_011541904.1:n.-49C>G
XM_011543603.3:c.-49C>G	XP_011541905.1:n.-49C>G