Canonical Allele Identifier: CA360086943

Gene: SMN2

Linked Data

• MyVariant Identifiers: chr5:g.69372351T>C (hg19) ; chr5:g.70076524T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076524T>C , CM000667.2:g.70076524T>C	GRCh38
NC_000005.9:g.69372351T>C , CM000667.1:g.69372351T>C	GRCh37
NC_000005.8:g.69408107T>C	NCBI36
NG_008728.1:g.32002T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.838T>C MANE Select	ENSP00000370119.4:p.Phe280Leu
ENST00000380741.8:c.838T>C	ENSP00000370117.5:p.Phe280Leu
ENST00000380742.8:c.742T>C	ENSP00000370118.4:p.Phe248Leu
ENST00000380743.8:c.838T>C	ENSP00000370119.4:p.Phe280Leu
ENST00000505346.5:n.304T>C
ENST00000506734.5:c.*59-495T>C	ENSP00000424799.1:n.*59-495T>C
ENST00000507458.2:c.92T>C
ENST00000511812.5:c.637T>C	ENSP00000424282.1:p.Phe213Leu
ENST00000514914.1:n.379T>C
ENST00000614240.4:c.742T>C	ENSP00000479279.1:p.Phe248Leu
ENST00000626847.2:c.835-495T>C	ENSP00000486152.1:n.835-495T>C
NM_017411.3:c.838T>C	NP_059107.1:p.Phe280Leu
NM_022875.2:c.835-495T>C	NP_075013.1:n.835-495T>C
NM_022876.2:c.742T>C	NP_075014.1:p.Phe248Leu
NM_022877.2:c.739-495T>C	NP_075015.1:n.739-495T>C
XM_011543600.1:c.637T>C	XP_011541902.1:p.Phe213Leu
XM_011543601.1:c.634-495T>C	XP_011541903.1:n.634-495T>C
XM_011543602.1:c.541T>C	XP_011541904.1:p.Phe181Leu
XM_011543603.1:c.538-495T>C	XP_011541905.1:n.538-495T>C
XR_948432.1:n.1054+88520T>C
XM_011543600.2:c.637T>C	XP_011541902.1:p.Phe213Leu
XM_011543602.3:c.541T>C	XP_011541904.1:p.Phe181Leu
XM_011543603.3:c.538-495T>C	XP_011541905.1:n.538-495T>C
NM_017411.4:c.838T>C MANE Select	NP_059107.1:p.Phe280Leu
NM_022875.3:c.835-495T>C	NP_075013.1:n.835-495T>C