Canonical Allele Identifier: CA360086427

Gene: SMN2

Linked Data

• dbSNP Id: rs1354905416
• gnomAD v2: 5-69366531-A-G
• gnomAD v3: 5-70070704-A-G
• gnomAD v4: 5-70070704-A-G
• MyVariant Identifiers: chr5:g.69366531A>G (hg19) ; chr5:g.70070704A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70070704A>G , CM000667.2:g.70070704A>G	GRCh38
NC_000005.9:g.69366531A>G , CM000667.1:g.69366531A>G	GRCh37
NC_000005.8:g.69402287A>G	NCBI36
NG_008728.1:g.26182A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380743.9:c.787A>G MANE Select	ENSP00000370119.4:p.Met263Val
ENST00000638794.1:c.787A>G	ENSP00000492675.1:p.Met263Val
ENST00000380741.8:c.787A>G	ENSP00000370117.5:p.Met263Val
ENST00000380742.8:c.691A>G	ENSP00000370118.4:p.Met231Val
ENST00000380743.8:c.787A>G	ENSP00000370119.4:p.Met263Val
ENST00000503678.5:n.710A>G
ENST00000505346.5:n.253A>G
ENST00000506734.5:c.787A>G	ENSP00000424799.1:p.Met263Val
ENST00000507458.2:c.41A>G
ENST00000508258.1:n.162A>G
ENST00000509805.5:n.354A>G
ENST00000511812.5:c.586A>G	ENSP00000424282.1:p.Met196Val
ENST00000514914.1:n.328A>G
ENST00000614240.4:c.691A>G	ENSP00000479279.1:p.Met231Val
ENST00000626847.2:c.787A>G	ENSP00000486152.1:p.Met263Val
ENST00000628696.2:c.787A>G	ENSP00000486268.1:p.Met263Val
NM_017411.3:c.787A>G	NP_059107.1:p.Met263Val
NM_022875.2:c.787A>G	NP_075013.1:p.Met263Val
NM_022876.2:c.691A>G	NP_075014.1:p.Met231Val
NM_022877.2:c.691A>G	NP_075015.1:p.Met231Val
XM_011543599.1:c.787A>G	XP_011541901.1:p.Met263Val
XM_011543600.1:c.586A>G	XP_011541902.1:p.Met196Val
XM_011543601.1:c.586A>G	XP_011541903.1:p.Met196Val
XM_011543602.1:c.490A>G	XP_011541904.1:p.Met164Val
XM_011543603.1:c.490A>G	XP_011541905.1:p.Met164Val
XR_948432.1:n.1054+82700A>G
XM_011543600.2:c.586A>G	XP_011541902.1:p.Met196Val
XM_011543602.3:c.490A>G	XP_011541904.1:p.Met164Val
XM_011543603.3:c.490A>G	XP_011541905.1:p.Met164Val
XM_017009787.1:c.787A>G	XP_016865276.1:p.Met263Val
NM_017411.4:c.787A>G MANE Select	NP_059107.1:p.Met263Val
NM_022875.3:c.787A>G	NP_075013.1:p.Met263Val