Canonical Allele Identifier: CA360086983

Gene: SMN2

Linked Data

• MyVariant Identifiers: chr5:g.69372366A>T (hg19) ; chr5:g.70076539A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70076539A>T , CM000667.2:g.70076539A>T	GRCh38
NC_000005.9:g.69372366A>T , CM000667.1:g.69372366A>T	GRCh37
NC_000005.8:g.69408122A>T	NCBI36
NG_008728.1:g.32017A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380743.9:c.853A>T MANE Select	ENSP00000370119.4:p.Lys285Ter
ENST00000380741.8:c.853A>T	ENSP00000370117.5:p.Lys285Ter
ENST00000380742.8:c.757A>T	ENSP00000370118.4:p.Lys253Ter
ENST00000380743.8:c.853A>T	ENSP00000370119.4:p.Lys285Ter
ENST00000505346.5:n.319A>T
ENST00000506734.5:c.*59-480A>T	ENSP00000424799.1:n.*59-480A>T
ENST00000507458.2:c.107A>T
ENST00000511812.5:c.652A>T	ENSP00000424282.1:p.Lys218Ter
ENST00000514914.1:n.394A>T
ENST00000614240.4:c.757A>T	ENSP00000479279.1:p.Lys253Ter
ENST00000626847.2:c.835-480A>T	ENSP00000486152.1:n.835-480A>T
NM_017411.3:c.853A>T	NP_059107.1:p.Lys285Ter
NM_022875.2:c.835-480A>T	NP_075013.1:n.835-480A>T
NM_022876.2:c.757A>T	NP_075014.1:p.Lys253Ter
NM_022877.2:c.739-480A>T	NP_075015.1:n.739-480A>T
XM_011543600.1:c.652A>T	XP_011541902.1:p.Lys218Ter
XM_011543601.1:c.634-480A>T	XP_011541903.1:n.634-480A>T
XM_011543602.1:c.556A>T	XP_011541904.1:p.Lys186Ter
XM_011543603.1:c.538-480A>T	XP_011541905.1:n.538-480A>T
XR_948432.1:n.1054+88535A>T
XM_011543600.2:c.652A>T	XP_011541902.1:p.Lys218Ter
XM_011543602.3:c.556A>T	XP_011541904.1:p.Lys186Ter
XM_011543603.3:c.538-480A>T	XP_011541905.1:n.538-480A>T
NM_017411.4:c.853A>T MANE Select	NP_059107.1:p.Lys285Ter
NM_022875.3:c.835-480A>T	NP_075013.1:n.835-480A>T