Canonical Allele Identifier: CA444898746

Gene: SMN2

Linked Data

• MyVariant Identifiers: chr5:g.69366522T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070695T>C , CM000667.2:g.70070695T>C	GRCh38
NC_000005.9:g.69366522T>C , CM000667.1:g.69366522T>C	GRCh37
NC_000005.8:g.69402278T>C	NCBI36
NG_008728.1:g.26173T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.778T>C MANE Select	ENSP00000370119.4:p.Leu260=
ENST00000638794.1:c.778T>C	ENSP00000492675.1:p.Leu260=
ENST00000380741.8:c.778T>C	ENSP00000370117.5:p.Leu260=
ENST00000380742.8:c.682T>C	ENSP00000370118.4:p.Leu228=
ENST00000380743.8:c.778T>C	ENSP00000370119.4:p.Leu260=
ENST00000503678.5:n.701T>C
ENST00000505346.5:n.244T>C
ENST00000506734.5:c.778T>C	ENSP00000424799.1:p.Leu260=
ENST00000507458.2:c.32T>C
ENST00000508258.1:n.153T>C
ENST00000509805.5:n.345T>C
ENST00000511812.5:c.577T>C	ENSP00000424282.1:p.Leu193=
ENST00000514914.1:n.319T>C
ENST00000614240.4:c.682T>C	ENSP00000479279.1:p.Leu228=
ENST00000626847.2:c.778T>C	ENSP00000486152.1:p.Leu260=
ENST00000628696.2:c.778T>C	ENSP00000486268.1:p.Leu260=
NM_017411.3:c.778T>C	NP_059107.1:p.Leu260=
NM_022875.2:c.778T>C	NP_075013.1:p.Leu260=
NM_022876.2:c.682T>C	NP_075014.1:p.Leu228=
NM_022877.2:c.682T>C	NP_075015.1:p.Leu228=
XM_011543599.1:c.778T>C	XP_011541901.1:p.Leu260=
XM_011543600.1:c.577T>C	XP_011541902.1:p.Leu193=
XM_011543601.1:c.577T>C	XP_011541903.1:p.Leu193=
XM_011543602.1:c.481T>C	XP_011541904.1:p.Leu161=
XM_011543603.1:c.481T>C	XP_011541905.1:p.Leu161=
XR_948432.1:n.1054+82691T>C
XM_011543600.2:c.577T>C	XP_011541902.1:p.Leu193=
XM_011543602.3:c.481T>C	XP_011541904.1:p.Leu161=
XM_011543603.3:c.481T>C	XP_011541905.1:p.Leu161=
XM_017009787.1:c.778T>C	XP_016865276.1:p.Leu260=
NM_017411.4:c.778T>C MANE Select	NP_059107.1:p.Leu260=
NM_022875.3:c.778T>C	NP_075013.1:p.Leu260=