Canonical Allele Identifier: CA120719472
Gene: SMN2 HGNC NCBI

Linked Data

gnomAD v4: 5-70070738-C-T
MyVariant Identifiers: chr5:g.69366565C>T (hg19) chr5:g.70070738C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70070738C>T , CM000667.2:g.70070738C>T GRCh38
NC_000005.9:g.69366565C>T , CM000667.1:g.69366565C>T GRCh37
NC_000005.8:g.69402321C>T NCBI36
NG_008728.1:g.26216C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380743.9:c.821C>T MANE Select ENSP00000370119.4:p.Thr274Ile
ENST00000638794.1:c.821C>T ENSP00000492675.1:p.Thr274Ile
ENST00000380741.8:c.821C>T ENSP00000370117.5:p.Thr274Ile
ENST00000380742.8:c.725C>T ENSP00000370118.4:p.Thr242Ile
ENST00000380743.8:c.821C>T ENSP00000370119.4:p.Thr274Ile
ENST00000503678.5:n.744C>T
ENST00000505346.5:n.287C>T
ENST00000506734.5:c.821C>T ENSP00000424799.1:p.Thr274Ile
ENST00000507458.2:c.75C>T
ENST00000508258.1:n.196C>T
ENST00000509805.5:n.388C>T
ENST00000511812.5:c.620C>T ENSP00000424282.1:p.Thr207Ile
ENST00000514914.1:n.362C>T
ENST00000614240.4:c.725C>T ENSP00000479279.1:p.Thr242Ile
ENST00000626847.2:c.821C>T ENSP00000486152.1:p.Thr274Ile
ENST00000628696.2:c.821C>T ENSP00000486268.1:p.Thr274Ile
NM_017411.3:c.821C>T NP_059107.1:p.Thr274Ile
NM_022875.2:c.821C>T NP_075013.1:p.Thr274Ile
NM_022876.2:c.725C>T NP_075014.1:p.Thr242Ile
NM_022877.2:c.725C>T NP_075015.1:p.Thr242Ile
XM_011543599.1:c.821C>T XP_011541901.1:p.Thr274Ile
XM_011543600.1:c.620C>T XP_011541902.1:p.Thr207Ile
XM_011543601.1:c.620C>T XP_011541903.1:p.Thr207Ile
XM_011543602.1:c.524C>T XP_011541904.1:p.Thr175Ile
XM_011543603.1:c.524C>T XP_011541905.1:p.Thr175Ile
XR_948432.1:n.1054+82734C>T
XM_011543600.2:c.620C>T XP_011541902.1:p.Thr207Ile
XM_011543602.3:c.524C>T XP_011541904.1:p.Thr175Ile
XM_011543603.3:c.524C>T XP_011541905.1:p.Thr175Ile
XM_017009787.1:c.821C>T XP_016865276.1:p.Thr274Ile
NM_017411.4:c.821C>T MANE Select NP_059107.1:p.Thr274Ile
NM_022875.3:c.821C>T NP_075013.1:p.Thr274Ile
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