Canonical Allele Identifier: CA120719470

Gene: SMN2

Linked Data

• dbSNP Id: rs75586164
• gnomAD v2: 5-69366478-C-T
• gnomAD v4: 5-70070651-C-T
• MyVariant Identifiers: chr5:g.69366478C>T (hg19) ; chr5:g.70070651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070651C>T , CM000667.2:g.70070651C>T	GRCh38
NC_000005.9:g.69366478C>T , CM000667.1:g.69366478C>T	GRCh37
NC_000005.8:g.69402234C>T	NCBI36
NG_008728.1:g.26129C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380743.9:c.734C>T MANE Select	ENSP00000370119.4:p.Pro245Leu
ENST00000638794.1:c.734C>T	ENSP00000492675.1:p.Pro245Leu
ENST00000380741.8:c.734C>T	ENSP00000370117.5:p.Pro245Leu
ENST00000380742.8:c.638C>T	ENSP00000370118.4:p.Pro213Leu
ENST00000380743.8:c.734C>T	ENSP00000370119.4:p.Pro245Leu
ENST00000503678.5:n.657C>T
ENST00000505346.5:n.200C>T
ENST00000506734.5:c.734C>T	ENSP00000424799.1:p.Pro245Leu
ENST00000508258.1:n.109C>T
ENST00000509805.5:n.301C>T
ENST00000511812.5:c.533C>T	ENSP00000424282.1:p.Pro178Leu
ENST00000511873.6:c.428C>T	ENSP00000475824.1:n.428C>T
ENST00000514914.1:n.275C>T
ENST00000614240.4:c.638C>T	ENSP00000479279.1:p.Pro213Leu
ENST00000626847.2:c.734C>T	ENSP00000486152.1:p.Pro245Leu
ENST00000628696.2:c.734C>T	ENSP00000486268.1:p.Pro245Leu
NM_017411.3:c.734C>T	NP_059107.1:p.Pro245Leu
NM_022875.2:c.734C>T	NP_075013.1:p.Pro245Leu
NM_022876.2:c.638C>T	NP_075014.1:p.Pro213Leu
NM_022877.2:c.638C>T	NP_075015.1:p.Pro213Leu
XM_011543599.1:c.734C>T	XP_011541901.1:p.Pro245Leu
XM_011543600.1:c.533C>T	XP_011541902.1:p.Pro178Leu
XM_011543601.1:c.533C>T	XP_011541903.1:p.Pro178Leu
XM_011543602.1:c.437C>T	XP_011541904.1:p.Pro146Leu
XM_011543603.1:c.437C>T	XP_011541905.1:p.Pro146Leu
XR_948432.1:n.1054+82647C>T
XM_011543600.2:c.533C>T	XP_011541902.1:p.Pro178Leu
XM_011543602.3:c.437C>T	XP_011541904.1:p.Pro146Leu
XM_011543603.3:c.437C>T	XP_011541905.1:p.Pro146Leu
XM_017009787.1:c.734C>T	XP_016865276.1:p.Pro245Leu
NM_017411.4:c.734C>T MANE Select	NP_059107.1:p.Pro245Leu
NM_022875.3:c.734C>T	NP_075013.1:p.Pro245Leu