Canonical Allele Identifier: CA120719408

Gene: SMN2

Linked Data

• dbSNP Id: rs934329084
• gnomAD v3: 5-70049642-T-C
• gnomAD v4: 5-70049642-T-C
• MyVariant Identifiers: chr5:g.69345469T>C (hg19) ; chr5:g.70049642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049642T>C , CM000667.2:g.70049642T>C	GRCh38
NC_000005.9:g.69345469T>C , CM000667.1:g.69345469T>C	GRCh37
NC_000005.8:g.69381225T>C	NCBI36
NG_008728.1:g.5120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.8:c.-44T>C	ENSP00000370119.4:n.-44T>C
ENST00000511812.5:c.-44T>C	ENSP00000424282.1:n.-44T>C
NM_017411.3:c.-44T>C	NP_059107.1:n.-44T>C
NM_022875.2:c.-44T>C	NP_075013.1:n.-44T>C
NM_022876.2:c.-44T>C	NP_075014.1:n.-44T>C
NM_022877.2:c.-44T>C	NP_075015.1:n.-44T>C
XM_011543600.1:c.-44T>C	XP_011541902.1:n.-44T>C
XM_011543601.1:c.-44T>C	XP_011541903.1:n.-44T>C
XM_011543602.1:c.-44T>C	XP_011541904.1:n.-44T>C
XM_011543603.1:c.-44T>C	XP_011541905.1:n.-44T>C
XR_948432.1:n.1054+61638T>C
XM_011543600.2:c.-44T>C	XP_011541902.1:n.-44T>C
XM_011543602.3:c.-44T>C	XP_011541904.1:n.-44T>C
XM_011543603.3:c.-44T>C	XP_011541905.1:n.-44T>C