Canonical Allele Identifier: CA2766889331

Gene: SMN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049632G>T , CM000667.2:g.70049632G>T	GRCh38
NC_000005.9:g.69345459G>T , CM000667.1:g.69345459G>T	GRCh37
NC_000005.8:g.69381215G>T	NCBI36
NG_008728.1:g.5110G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-54G>T	ENSP00000370119.4:n.-54G>T
NM_017411.3:c.-54G>T	NP_059107.1:n.-54G>T
NM_022875.2:c.-54G>T	NP_075013.1:n.-54G>T
NM_022876.2:c.-54G>T	NP_075014.1:n.-54G>T
NM_022877.2:c.-54G>T	NP_075015.1:n.-54G>T
XM_011543602.1:c.-54G>T	XP_011541904.1:n.-54G>T
XM_011543603.1:c.-54G>T	XP_011541905.1:n.-54G>T
XR_948432.1:n.1054+61628G>T
XM_011543602.3:c.-54G>T	XP_011541904.1:n.-54G>T
XM_011543603.3:c.-54G>T	XP_011541905.1:n.-54G>T