Canonical Allele Identifier: CA360086141

Gene: SMN2

Linked Data

• gnomAD v4: 5-70070644-A-C
• MyVariant Identifiers: chr5:g.69366471A>C (hg19) ; chr5:g.70070644A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070644A>C , CM000667.2:g.70070644A>C	GRCh38
NC_000005.9:g.69366471A>C , CM000667.1:g.69366471A>C	GRCh37
NC_000005.8:g.69402227A>C	NCBI36
NG_008728.1:g.26122A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380743.9:c.727A>C MANE Select	ENSP00000370119.4:p.Ile243Leu
ENST00000638794.1:c.727A>C	ENSP00000492675.1:p.Ile243Leu
ENST00000380741.8:c.727A>C	ENSP00000370117.5:p.Ile243Leu
ENST00000380742.8:c.631A>C	ENSP00000370118.4:p.Ile211Leu
ENST00000380743.8:c.727A>C	ENSP00000370119.4:p.Ile243Leu
ENST00000503678.5:n.650A>C
ENST00000505346.5:n.193A>C
ENST00000506734.5:c.727A>C	ENSP00000424799.1:p.Ile243Leu
ENST00000508258.1:n.102A>C
ENST00000509805.5:n.294A>C
ENST00000511812.5:c.526A>C	ENSP00000424282.1:p.Ile176Leu
ENST00000511873.6:c.421A>C	ENSP00000475824.1:n.421A>C
ENST00000514914.1:n.268A>C
ENST00000614240.4:c.631A>C	ENSP00000479279.1:p.Ile211Leu
ENST00000626847.2:c.727A>C	ENSP00000486152.1:p.Ile243Leu
ENST00000628696.2:c.727A>C	ENSP00000486268.1:p.Ile243Leu
NM_017411.3:c.727A>C	NP_059107.1:p.Ile243Leu
NM_022875.2:c.727A>C	NP_075013.1:p.Ile243Leu
NM_022876.2:c.631A>C	NP_075014.1:p.Ile211Leu
NM_022877.2:c.631A>C	NP_075015.1:p.Ile211Leu
XM_011543599.1:c.727A>C	XP_011541901.1:p.Ile243Leu
XM_011543600.1:c.526A>C	XP_011541902.1:p.Ile176Leu
XM_011543601.1:c.526A>C	XP_011541903.1:p.Ile176Leu
XM_011543602.1:c.430A>C	XP_011541904.1:p.Ile144Leu
XM_011543603.1:c.430A>C	XP_011541905.1:p.Ile144Leu
XR_948432.1:n.1054+82640A>C
XM_011543600.2:c.526A>C	XP_011541902.1:p.Ile176Leu
XM_011543602.3:c.430A>C	XP_011541904.1:p.Ile144Leu
XM_011543603.3:c.430A>C	XP_011541905.1:p.Ile144Leu
XM_017009787.1:c.727A>C	XP_016865276.1:p.Ile243Leu
NM_017411.4:c.727A>C MANE Select	NP_059107.1:p.Ile243Leu
NM_022875.3:c.727A>C	NP_075013.1:p.Ile243Leu