Canonical Allele Identifier: CA1554040992

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049635G= , CM000667.2:g.70049635G=	GRCh38
NC_000005.9:g.69345462G= , CM000667.1:g.69345462G=	GRCh37
NC_000005.8:g.69381218G=	NCBI36
NG_008728.1:g.5113G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-51G=	ENSP00000370119.4:n.-51G=
NM_017411.3:c.-51G=	NP_059107.1:n.-51G=
NM_022875.2:c.-51G=	NP_075013.1:n.-51G=
NM_022876.2:c.-51G=	NP_075014.1:n.-51G=
NM_022877.2:c.-51G=	NP_075015.1:n.-51G=
XM_011543602.1:c.-51G=	XP_011541904.1:n.-51G=
XM_011543603.1:c.-51G=	XP_011541905.1:n.-51G=
XR_948432.1:n.1054+61631G=
XM_011543602.3:c.-51G=	XP_011541904.1:n.-51G=
XM_011543603.3:c.-51G=	XP_011541905.1:n.-51G=