Canonical Allele Identifier: CA360086474
Gene: SMN2 HGNC NCBI

Linked Data

dbSNP Id: rs1443114061
gnomAD v2: 5-69366540-T-C
gnomAD v3: 5-70070713-T-C
gnomAD v4: 5-70070713-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70070713T>C , CM000667.2:g.70070713T>C GRCh38
NC_000005.9:g.69366540T>C , CM000667.1:g.69366540T>C GRCh37
NC_000005.8:g.69402296T>C NCBI36
NG_008728.1:g.26191T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380743.9:c.796T>C MANE Select ENSP00000370119.4:p.Ser266Pro
ENST00000638794.1:c.796T>C ENSP00000492675.1:p.Ser266Pro
ENST00000380741.8:c.796T>C ENSP00000370117.5:p.Ser266Pro
ENST00000380742.8:c.700T>C ENSP00000370118.4:p.Ser234Pro
ENST00000380743.8:c.796T>C ENSP00000370119.4:p.Ser266Pro
ENST00000503678.5:n.719T>C
ENST00000505346.5:n.262T>C
ENST00000506734.5:c.796T>C ENSP00000424799.1:p.Ser266Pro
ENST00000507458.2:c.50T>C
ENST00000508258.1:n.171T>C
ENST00000509805.5:n.363T>C
ENST00000511812.5:c.595T>C ENSP00000424282.1:p.Ser199Pro
ENST00000514914.1:n.337T>C
ENST00000614240.4:c.700T>C ENSP00000479279.1:p.Ser234Pro
ENST00000626847.2:c.796T>C ENSP00000486152.1:p.Ser266Pro
ENST00000628696.2:c.796T>C ENSP00000486268.1:p.Ser266Pro
NM_017411.3:c.796T>C NP_059107.1:p.Ser266Pro
NM_022875.2:c.796T>C NP_075013.1:p.Ser266Pro
NM_022876.2:c.700T>C NP_075014.1:p.Ser234Pro
NM_022877.2:c.700T>C NP_075015.1:p.Ser234Pro
XM_011543599.1:c.796T>C XP_011541901.1:p.Ser266Pro
XM_011543600.1:c.595T>C XP_011541902.1:p.Ser199Pro
XM_011543601.1:c.595T>C XP_011541903.1:p.Ser199Pro
XM_011543602.1:c.499T>C XP_011541904.1:p.Ser167Pro
XM_011543603.1:c.499T>C XP_011541905.1:p.Ser167Pro
XR_948432.1:n.1054+82709T>C
XM_011543600.2:c.595T>C XP_011541902.1:p.Ser199Pro
XM_011543602.3:c.499T>C XP_011541904.1:p.Ser167Pro
XM_011543603.3:c.499T>C XP_011541905.1:p.Ser167Pro
XM_017009787.1:c.796T>C XP_016865276.1:p.Ser266Pro
NM_017411.4:c.796T>C MANE Select NP_059107.1:p.Ser266Pro
NM_022875.3:c.796T>C NP_075013.1:p.Ser266Pro