Canonical Allele Identifier: CA560269446

Gene: SMN2

Linked Data

• dbSNP Id: rs1561414186
• gnomAD v2: 5-69345480-C-CG
• gnomAD v3: 5-70049653-C-CG
• gnomAD v4: 5-70049653-C-CG
• MyVariant Identifiers: chr5:g.69345480_69345481insG (hg19) ; chr5:g.70049653_70049654insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049657dup , CM000667.2:g.70049657dup	GRCh38
NC_000005.9:g.69345484dup , CM000667.1:g.69345484dup	GRCh37
NC_000005.8:g.69381240dup	NCBI36
NG_008728.1:g.5135dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-29dup	ENSP00000370119.4:n.-29dup
ENST00000511812.5:c.-29dup	ENSP00000424282.1:n.-29dup
ENST00000626847.2:c.-29dup	ENSP00000486152.1:n.-29dup
NM_017411.3:c.-29dup	NP_059107.1:n.-29dup
NM_022875.2:c.-29dup	NP_075013.1:n.-29dup
NM_022876.2:c.-29dup	NP_075014.1:n.-29dup
NM_022877.2:c.-29dup	NP_075015.1:n.-29dup
XM_011543599.1:c.-29dup	XP_011541901.1:n.-29dup
XM_011543600.1:c.-29dup	XP_011541902.1:n.-29dup
XM_011543601.1:c.-29dup	XP_011541903.1:n.-29dup
XM_011543602.1:c.-29dup	XP_011541904.1:n.-29dup
XM_011543603.1:c.-29dup	XP_011541905.1:n.-29dup
XR_948432.1:n.1054+61653dup
XM_011543600.2:c.-29dup	XP_011541902.1:n.-29dup
XM_011543602.3:c.-29dup	XP_011541904.1:n.-29dup
XM_011543603.3:c.-29dup	XP_011541905.1:n.-29dup
XM_017009787.1:c.-29dup	XP_016865276.1:n.-29dup