Canonical Allele Identifier: CA560269460

Gene: SMN2

Linked Data

• dbSNP Id: rs1419345758
• gnomAD v2: 5-69345502-G-A
• gnomAD v4: 5-70049675-G-A
• MyVariant Identifiers: chr5:g.69345502G>A (hg19) ; chr5:g.70049675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049675G>A , CM000667.2:g.70049675G>A	GRCh38
NC_000005.9:g.69345502G>A , CM000667.1:g.69345502G>A	GRCh37
NC_000005.8:g.69381258G>A	NCBI36
NG_008728.1:g.5153G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.-11G>A MANE Select	ENSP00000370119.4:n.-11G>A
ENST00000380742.8:c.-11G>A	ENSP00000370118.4:n.-11G>A
ENST00000380743.8:c.-11G>A	ENSP00000370119.4:n.-11G>A
ENST00000506734.5:c.-11G>A	ENSP00000424799.1:n.-11G>A
ENST00000511812.5:c.-11G>A	ENSP00000424282.1:n.-11G>A
ENST00000626847.2:c.-11G>A	ENSP00000486152.1:n.-11G>A
NM_017411.3:c.-11G>A	NP_059107.1:n.-11G>A
NM_022875.2:c.-11G>A	NP_075013.1:n.-11G>A
NM_022876.2:c.-11G>A	NP_075014.1:n.-11G>A
NM_022877.2:c.-11G>A	NP_075015.1:n.-11G>A
XM_011543599.1:c.-11G>A	XP_011541901.1:n.-11G>A
XM_011543600.1:c.-11G>A	XP_011541902.1:n.-11G>A
XM_011543601.1:c.-11G>A	XP_011541903.1:n.-11G>A
XM_011543602.1:c.-11G>A	XP_011541904.1:n.-11G>A
XM_011543603.1:c.-11G>A	XP_011541905.1:n.-11G>A
XR_948432.1:n.1054+61671G>A
XM_011543600.2:c.-11G>A	XP_011541902.1:n.-11G>A
XM_011543602.3:c.-11G>A	XP_011541904.1:n.-11G>A
XM_011543603.3:c.-11G>A	XP_011541905.1:n.-11G>A
XM_017009787.1:c.-11G>A	XP_016865276.1:n.-11G>A
NM_017411.4:c.-11G>A MANE Select	NP_059107.1:n.-11G>A
NM_022875.3:c.-11G>A	NP_075013.1:n.-11G>A