Canonical Allele Identifier: CA813570025

Gene: SMN2

Linked Data

• dbSNP Id: rs1406766339
• gnomAD v3: 5-70049674-C-T
• gnomAD v4: 5-70049674-C-T
• MyVariant Identifiers: chr5:g.69345501C>T (hg19) ; chr5:g.70049674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049674C>T , CM000667.2:g.70049674C>T	GRCh38
NC_000005.9:g.69345501C>T , CM000667.1:g.69345501C>T	GRCh37
NC_000005.8:g.69381257C>T	NCBI36
NG_008728.1:g.5152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.-12C>T MANE Select	ENSP00000370119.4:n.-12C>T
ENST00000380742.8:c.-12C>T	ENSP00000370118.4:n.-12C>T
ENST00000380743.8:c.-12C>T	ENSP00000370119.4:n.-12C>T
ENST00000506734.5:c.-12C>T	ENSP00000424799.1:n.-12C>T
ENST00000511812.5:c.-12C>T	ENSP00000424282.1:n.-12C>T
ENST00000626847.2:c.-12C>T	ENSP00000486152.1:n.-12C>T
NM_017411.3:c.-12C>T	NP_059107.1:n.-12C>T
NM_022875.2:c.-12C>T	NP_075013.1:n.-12C>T
NM_022876.2:c.-12C>T	NP_075014.1:n.-12C>T
NM_022877.2:c.-12C>T	NP_075015.1:n.-12C>T
XM_011543599.1:c.-12C>T	XP_011541901.1:n.-12C>T
XM_011543600.1:c.-12C>T	XP_011541902.1:n.-12C>T
XM_011543601.1:c.-12C>T	XP_011541903.1:n.-12C>T
XM_011543602.1:c.-12C>T	XP_011541904.1:n.-12C>T
XM_011543603.1:c.-12C>T	XP_011541905.1:n.-12C>T
XR_948432.1:n.1054+61670C>T
XM_011543600.2:c.-12C>T	XP_011541902.1:n.-12C>T
XM_011543602.3:c.-12C>T	XP_011541904.1:n.-12C>T
XM_011543603.3:c.-12C>T	XP_011541905.1:n.-12C>T
XM_017009787.1:c.-12C>T	XP_016865276.1:n.-12C>T
NM_017411.4:c.-12C>T MANE Select	NP_059107.1:n.-12C>T
NM_022875.3:c.-12C>T	NP_075013.1:n.-12C>T