Canonical Allele Identifier: CA2766889328

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049616G>A , CM000667.2:g.70049616G>A	GRCh38
NC_000005.9:g.69345443G>A , CM000667.1:g.69345443G>A	GRCh37
NC_000005.8:g.69381199G>A	NCBI36
NG_008728.1:g.5094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-70G>A	ENSP00000370119.4:n.-70G>A
NM_017411.3:c.-70G>A	NP_059107.1:n.-70G>A
NM_022875.2:c.-70G>A	NP_075013.1:n.-70G>A
NM_022876.2:c.-70G>A	NP_075014.1:n.-70G>A
NM_022877.2:c.-70G>A	NP_075015.1:n.-70G>A
XR_948432.1:n.1054+61612G>A