Canonical Allele Identifier: CA1304529695

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165308672C= , CM000664.2:g.165308672C=	GRCh38
NC_000002.11:g.166165182C= , CM000664.1:g.166165182C=	GRCh37
NC_000002.10:g.165873428C=	NCBI36
NG_008143.1:g.74271C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.483C= MANE Plus Clinical	ENSP00000486885.1:p.Thr161=
ENST00000375437.7:c.483C= MANE Select	ENSP00000364586.2:p.Thr161=
ENST00000635945.1:n.846C=
ENST00000636071.2:c.483C=	ENSP00000490107.1:p.Thr161=
ENST00000636135.1:c.477-680C=	ENSP00000489821.1:n.477-680C=
ENST00000636384.2:c.483C=	ENSP00000490765.1:p.Thr161=
ENST00000636662.2:c.*1006C=	ENSP00000489873.1:n.*1006C=
ENST00000636769.1:c.483C=	ENSP00000490800.1:p.Thr161=
ENST00000636985.2:c.87C=	ENSP00000490849.1:p.Thr29=
ENST00000637266.2:c.483C=	ENSP00000490866.1:p.Thr161=
ENST00000637367.1:c.*416C=	ENSP00000490592.1:n.*416C=
ENST00000638151.1:n.567C=
ENST00000283256.10:c.483C=	ENSP00000283256.6:p.Thr161=
ENST00000375427.4:c.483C=	ENSP00000364576.2:p.Thr161=
ENST00000375437.6:c.483C=	ENSP00000364586.2:p.Thr161=
ENST00000424833.5:c.483C=	ENSP00000406454.2:p.Thr161=
ENST00000480032.4:n.626C=
ENST00000486878.2:c.24C=	ENSP00000487466.1:p.Thr8=
ENST00000631182.2:c.483C=	ENSP00000486885.1:p.Thr161=
NM_001040142.1:c.483C=	NP_001035232.1:p.Thr161=
NM_001040143.1:c.483C=	NP_001035233.1:p.Thr161=
NM_021007.2:c.483C=	NP_066287.2:p.Thr161=
XM_005246750.2:c.483C=	XP_005246807.1:p.Thr161=
XM_005246753.2:c.483C=	XP_005246810.1:p.Thr161=
XM_005246754.3:c.453C=	XP_005246811.1:p.Thr151=
XM_011511608.1:c.483C=	XP_011509910.1:p.Thr161=
XM_011511609.1:c.483C=	XP_011509911.1:p.Thr161=
XM_005246753.3:c.483C=	XP_005246810.1:p.Thr161=
XM_017004656.1:c.483C=	XP_016860145.1:p.Thr161=
XM_017004657.1:c.483C=	XP_016860146.1:p.Thr161=
XM_017004658.1:c.-458C=	XP_016860147.1:n.-458C=
XM_024453037.1:c.-179C=	XP_024308805.1:n.-179C=
NM_001040142.2:c.483C= MANE Select	NP_001035232.1:p.Thr161=
NM_001040143.2:c.483C=	NP_001035233.1:p.Thr161=
NM_001371246.1:c.483C= MANE Plus Clinical	NP_001358175.1:p.Thr161=
NM_001371247.1:c.483C=	NP_001358176.1:p.Thr161=
NM_021007.3:c.483C=	NP_066287.2:p.Thr161=