Canonical Allele Identifier: CA360086294

Gene: SMN2

Linked Data

• MyVariant Identifiers: chr5:g.69366505T>A (hg19) ; chr5:g.70070678T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070678T>A , CM000667.2:g.70070678T>A	GRCh38
NC_000005.9:g.69366505T>A , CM000667.1:g.69366505T>A	GRCh37
NC_000005.8:g.69402261T>A	NCBI36
NG_008728.1:g.26156T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.761T>A MANE Select	ENSP00000370119.4:p.Leu254His
ENST00000638794.1:c.761T>A	ENSP00000492675.1:p.Leu254His
ENST00000380741.8:c.761T>A	ENSP00000370117.5:p.Leu254His
ENST00000380742.8:c.665T>A	ENSP00000370118.4:p.Leu222His
ENST00000380743.8:c.761T>A	ENSP00000370119.4:p.Leu254His
ENST00000503678.5:n.684T>A
ENST00000505346.5:n.227T>A
ENST00000506734.5:c.761T>A	ENSP00000424799.1:p.Leu254His
ENST00000507458.2:c.15T>A
ENST00000508258.1:n.136T>A
ENST00000509805.5:n.328T>A
ENST00000511812.5:c.560T>A	ENSP00000424282.1:p.Leu187His
ENST00000514914.1:n.302T>A
ENST00000614240.4:c.665T>A	ENSP00000479279.1:p.Leu222His
ENST00000626847.2:c.761T>A	ENSP00000486152.1:p.Leu254His
ENST00000628696.2:c.761T>A	ENSP00000486268.1:p.Leu254His
NM_017411.3:c.761T>A	NP_059107.1:p.Leu254His
NM_022875.2:c.761T>A	NP_075013.1:p.Leu254His
NM_022876.2:c.665T>A	NP_075014.1:p.Leu222His
NM_022877.2:c.665T>A	NP_075015.1:p.Leu222His
XM_011543599.1:c.761T>A	XP_011541901.1:p.Leu254His
XM_011543600.1:c.560T>A	XP_011541902.1:p.Leu187His
XM_011543601.1:c.560T>A	XP_011541903.1:p.Leu187His
XM_011543602.1:c.464T>A	XP_011541904.1:p.Leu155His
XM_011543603.1:c.464T>A	XP_011541905.1:p.Leu155His
XR_948432.1:n.1054+82674T>A
XM_011543600.2:c.560T>A	XP_011541902.1:p.Leu187His
XM_011543602.3:c.464T>A	XP_011541904.1:p.Leu155His
XM_011543603.3:c.464T>A	XP_011541905.1:p.Leu155His
XM_017009787.1:c.761T>A	XP_016865276.1:p.Leu254His
NM_017411.4:c.761T>A MANE Select	NP_059107.1:p.Leu254His
NM_022875.3:c.761T>A	NP_075013.1:p.Leu254His