Canonical Allele Identifier: CA360086222

Gene: SMN2

Linked Data

• MyVariant Identifiers: chr5:g.69366489A>C (hg19) ; chr5:g.70070662A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070662A>C , CM000667.2:g.70070662A>C	GRCh38
NC_000005.9:g.69366489A>C , CM000667.1:g.69366489A>C	GRCh37
NC_000005.8:g.69402245A>C	NCBI36
NG_008728.1:g.26140A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380743.9:c.745A>C MANE Select	ENSP00000370119.4:p.Ile249Leu
ENST00000638794.1:c.745A>C	ENSP00000492675.1:p.Ile249Leu
ENST00000380741.8:c.745A>C	ENSP00000370117.5:p.Ile249Leu
ENST00000380742.8:c.649A>C	ENSP00000370118.4:p.Ile217Leu
ENST00000380743.8:c.745A>C	ENSP00000370119.4:p.Ile249Leu
ENST00000503678.5:n.668A>C
ENST00000505346.5:n.211A>C
ENST00000506734.5:c.745A>C	ENSP00000424799.1:p.Ile249Leu
ENST00000508258.1:n.120A>C
ENST00000509805.5:n.312A>C
ENST00000511812.5:c.544A>C	ENSP00000424282.1:p.Ile182Leu
ENST00000514914.1:n.286A>C
ENST00000614240.4:c.649A>C	ENSP00000479279.1:p.Ile217Leu
ENST00000626847.2:c.745A>C	ENSP00000486152.1:p.Ile249Leu
ENST00000628696.2:c.745A>C	ENSP00000486268.1:p.Ile249Leu
NM_017411.3:c.745A>C	NP_059107.1:p.Ile249Leu
NM_022875.2:c.745A>C	NP_075013.1:p.Ile249Leu
NM_022876.2:c.649A>C	NP_075014.1:p.Ile217Leu
NM_022877.2:c.649A>C	NP_075015.1:p.Ile217Leu
XM_011543599.1:c.745A>C	XP_011541901.1:p.Ile249Leu
XM_011543600.1:c.544A>C	XP_011541902.1:p.Ile182Leu
XM_011543601.1:c.544A>C	XP_011541903.1:p.Ile182Leu
XM_011543602.1:c.448A>C	XP_011541904.1:p.Ile150Leu
XM_011543603.1:c.448A>C	XP_011541905.1:p.Ile150Leu
XR_948432.1:n.1054+82658A>C
XM_011543600.2:c.544A>C	XP_011541902.1:p.Ile182Leu
XM_011543602.3:c.448A>C	XP_011541904.1:p.Ile150Leu
XM_011543603.3:c.448A>C	XP_011541905.1:p.Ile150Leu
XM_017009787.1:c.745A>C	XP_016865276.1:p.Ile249Leu
NM_017411.4:c.745A>C MANE Select	NP_059107.1:p.Ile249Leu
NM_022875.3:c.745A>C	NP_075013.1:p.Ile249Leu