Canonical Allele Identifier: CA560271727

Gene: SMN2

Linked Data

• dbSNP Id: rs1192983458
• gnomAD v2: 5-69372474-T-C
• gnomAD v3: 5-70076647-T-C
• gnomAD v4: 5-70076647-T-C
• MyVariant Identifiers: chr5:g.69372474T>C (hg19) ; chr5:g.70076647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076647T>C , CM000667.2:g.70076647T>C	GRCh38
NC_000005.9:g.69372474T>C , CM000667.1:g.69372474T>C	GRCh37
NC_000005.8:g.69408230T>C	NCBI36
NG_008728.1:g.32125T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.*3+73T>C MANE Select	ENSP00000370119.4:n.*3+73T>C
ENST00000380742.8:c.*3+73T>C	ENSP00000370118.4:n.*3+73T>C
ENST00000380743.8:c.*3+73T>C	ENSP00000370119.4:n.*3+73T>C
ENST00000505346.5:n.427T>C
ENST00000506734.5:c.*59-372T>C	ENSP00000424799.1:n.*59-372T>C
ENST00000507458.2:c.142+73T>C
ENST00000511812.5:c.*76T>C	ENSP00000424282.1:n.*76T>C
ENST00000514914.1:n.429+73T>C
ENST00000626847.2:c.835-372T>C	ENSP00000486152.1:n.835-372T>C
NM_017411.3:c.*3+73T>C	NP_059107.1:n.*3+73T>C
NM_022875.2:c.835-372T>C	NP_075013.1:n.835-372T>C
NM_022876.2:c.*3+73T>C	NP_075014.1:n.*3+73T>C
NM_022877.2:c.739-372T>C	NP_075015.1:n.739-372T>C
XM_011543600.1:c.*3+73T>C	XP_011541902.1:n.*3+73T>C
XM_011543601.1:c.634-372T>C	XP_011541903.1:n.634-372T>C
XM_011543602.1:c.*3+73T>C	XP_011541904.1:n.*3+73T>C
XM_011543603.1:c.538-372T>C	XP_011541905.1:n.538-372T>C
XR_948432.1:n.1054+88643T>C
XM_011543600.2:c.*3+73T>C	XP_011541902.1:n.*3+73T>C
XM_011543602.3:c.*3+73T>C	XP_011541904.1:n.*3+73T>C
XM_011543603.3:c.538-372T>C	XP_011541905.1:n.538-372T>C
NM_017411.4:c.*3+73T>C MANE Select	NP_059107.1:n.*3+73T>C
NM_022875.3:c.835-372T>C	NP_075013.1:n.835-372T>C