Canonical Allele Identifier: CA2766889316

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049549C>T , CM000667.2:g.70049549C>T	GRCh38
NC_000005.9:g.69345376C>T , CM000667.1:g.69345376C>T	GRCh37
NC_000005.8:g.69381132C>T	NCBI36
NG_008728.1:g.5027C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017411.3:c.-137C>T	NP_059107.1:n.-137C>T
NM_022875.2:c.-137C>T	NP_075013.1:n.-137C>T
NM_022876.2:c.-137C>T	NP_075014.1:n.-137C>T
NM_022877.2:c.-137C>T	NP_075015.1:n.-137C>T
XR_948432.1:n.1054+61545C>T