Canonical Allele Identifier: CA2674142302
Gene: SMN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70076496_70076497dup , CM000667.2:g.70076496_70076497dup GRCh38
NC_000005.9:g.69372323_69372324dup , CM000667.1:g.69372323_69372324dup GRCh37
NC_000005.8:g.69408079_69408080dup NCBI36
NG_008728.1:g.31974_31975dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000380743.9:c.835-25_835-24dup MANE Select ENSP00000370119.4:n.835-25_835-24dup
ENST00000380741.8:c.835-25_835-24dup ENSP00000370117.5:n.835-25_835-24dup
ENST00000380742.8:c.739-25_739-24dup ENSP00000370118.4:n.739-25_739-24dup
ENST00000380743.8:c.835-25_835-24dup ENSP00000370119.4:n.835-25_835-24dup
ENST00000505346.5:n.301-25_301-24dup
ENST00000506734.5:c.*59-523_*59-522dup ENSP00000424799.1:n.*59-523_*59-522dup
ENST00000507458.2:c.89-25_89-24dup
ENST00000511812.5:c.634-25_634-24dup ENSP00000424282.1:n.634-25_634-24dup
ENST00000514914.1:n.376-25_376-24dup
ENST00000614240.4:c.739-25_739-24dup ENSP00000479279.1:n.739-25_739-24dup
ENST00000626847.2:c.835-523_835-522dup ENSP00000486152.1:n.835-523_835-522dup
NM_017411.3:c.835-25_835-24dup NP_059107.1:n.835-25_835-24dup
NM_022875.2:c.835-523_835-522dup NP_075013.1:n.835-523_835-522dup
NM_022876.2:c.739-25_739-24dup NP_075014.1:n.739-25_739-24dup
NM_022877.2:c.739-523_739-522dup NP_075015.1:n.739-523_739-522dup
XM_011543600.1:c.634-25_634-24dup XP_011541902.1:n.634-25_634-24dup
XM_011543601.1:c.634-523_634-522dup XP_011541903.1:n.634-523_634-522dup
XM_011543602.1:c.538-25_538-24dup XP_011541904.1:n.538-25_538-24dup
XM_011543603.1:c.538-523_538-522dup XP_011541905.1:n.538-523_538-522dup
XR_948432.1:n.1054+88492_1054+88493dup
XM_011543600.2:c.634-25_634-24dup XP_011541902.1:n.634-25_634-24dup
XM_011543602.3:c.538-25_538-24dup XP_011541904.1:n.538-25_538-24dup
XM_011543603.3:c.538-523_538-522dup XP_011541905.1:n.538-523_538-522dup
NM_017411.4:c.835-25_835-24dup MANE Select NP_059107.1:n.835-25_835-24dup
NM_022875.3:c.835-523_835-522dup NP_075013.1:n.835-523_835-522dup