Canonical Allele Identifier: CA360086132

Gene: SMN2

Linked Data

• MyVariant Identifiers: chr5:g.69366468A>C (hg19) ; chr5:g.70070641A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070641A>C , CM000667.2:g.70070641A>C	GRCh38
NC_000005.9:g.69366468A>C , CM000667.1:g.69366468A>C	GRCh37
NC_000005.8:g.69402224A>C	NCBI36
NG_008728.1:g.26119A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380743.9:c.724A>C MANE Select	ENSP00000370119.4:p.Ile242Leu
ENST00000638794.1:c.724A>C	ENSP00000492675.1:p.Ile242Leu
ENST00000380741.8:c.724A>C	ENSP00000370117.5:p.Ile242Leu
ENST00000380742.8:c.628A>C	ENSP00000370118.4:p.Ile210Leu
ENST00000380743.8:c.724A>C	ENSP00000370119.4:p.Ile242Leu
ENST00000503678.5:n.647A>C
ENST00000505346.5:n.190A>C
ENST00000506734.5:c.724A>C	ENSP00000424799.1:p.Ile242Leu
ENST00000508258.1:n.99A>C
ENST00000509805.5:n.291A>C
ENST00000511812.5:c.523A>C	ENSP00000424282.1:p.Ile175Leu
ENST00000511873.6:c.418A>C	ENSP00000475824.1:n.418A>C
ENST00000514914.1:n.265A>C
ENST00000614240.4:c.628A>C	ENSP00000479279.1:p.Ile210Leu
ENST00000626847.2:c.724A>C	ENSP00000486152.1:p.Ile242Leu
ENST00000628696.2:c.724A>C	ENSP00000486268.1:p.Ile242Leu
NM_017411.3:c.724A>C	NP_059107.1:p.Ile242Leu
NM_022875.2:c.724A>C	NP_075013.1:p.Ile242Leu
NM_022876.2:c.628A>C	NP_075014.1:p.Ile210Leu
NM_022877.2:c.628A>C	NP_075015.1:p.Ile210Leu
XM_011543599.1:c.724A>C	XP_011541901.1:p.Ile242Leu
XM_011543600.1:c.523A>C	XP_011541902.1:p.Ile175Leu
XM_011543601.1:c.523A>C	XP_011541903.1:p.Ile175Leu
XM_011543602.1:c.427A>C	XP_011541904.1:p.Ile143Leu
XM_011543603.1:c.427A>C	XP_011541905.1:p.Ile143Leu
XR_948432.1:n.1054+82637A>C
XM_011543600.2:c.523A>C	XP_011541902.1:p.Ile175Leu
XM_011543602.3:c.427A>C	XP_011541904.1:p.Ile143Leu
XM_011543603.3:c.427A>C	XP_011541905.1:p.Ile143Leu
XM_017009787.1:c.724A>C	XP_016865276.1:p.Ile242Leu
NM_017411.4:c.724A>C MANE Select	NP_059107.1:p.Ile242Leu
NM_022875.3:c.724A>C	NP_075013.1:p.Ile242Leu