Canonical Allele Identifier: CA349018069

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 982411
• ClinVar RCV Id: RCV001261989 ; RCV001526607
• dbSNP Id: rs1057520413
• MyVariant Identifiers: chr2:g.166166916G>T (hg19) ; chr2:g.165310406G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165310406G>T , CM000664.2:g.165310406G>T	GRCh38
NC_000002.11:g.166166916G>T , CM000664.1:g.166166916G>T	GRCh37
NC_000002.10:g.165875162G>T	NCBI36
NG_008143.1:g.76005G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.781G>T MANE Plus Clinical	ENSP00000486885.1:p.Val261Leu
ENST00000375437.7:c.781G>T MANE Select	ENSP00000364586.2:p.Val261Leu
ENST00000635945.1:n.1144G>T
ENST00000636071.2:c.781G>T	ENSP00000490107.1:p.Val261Leu
ENST00000636135.1:c.652G>T	ENSP00000489821.1:p.Val218Leu
ENST00000636384.2:c.781G>T	ENSP00000490765.1:p.Val261Leu
ENST00000636662.2:c.*1304G>T	ENSP00000489873.1:n.*1304G>T
ENST00000636769.1:c.781G>T	ENSP00000490800.1:p.Val261Leu
ENST00000636985.2:c.385G>T	ENSP00000490849.1:p.Val129Leu
ENST00000637266.2:c.781G>T	ENSP00000490866.1:p.Val261Leu
ENST00000637367.1:c.*714G>T	ENSP00000490592.1:n.*714G>T
ENST00000638151.1:n.865G>T
ENST00000283256.10:c.781G>T	ENSP00000283256.6:p.Val261Leu
ENST00000375427.4:c.781G>T	ENSP00000364576.2:p.Val261Leu
ENST00000375437.6:c.781G>T	ENSP00000364586.2:p.Val261Leu
ENST00000424833.5:c.781G>T	ENSP00000406454.2:p.Val261Leu
ENST00000480032.4:n.924G>T
ENST00000486878.2:c.322G>T	ENSP00000487466.1:p.Val108Leu
ENST00000631182.2:c.781G>T	ENSP00000486885.1:p.Val261Leu
NM_001040142.1:c.781G>T	NP_001035232.1:p.Val261Leu
NM_001040143.1:c.781G>T	NP_001035233.1:p.Val261Leu
NM_021007.2:c.781G>T	NP_066287.2:p.Val261Leu
XM_005246750.2:c.781G>T	XP_005246807.1:p.Val261Leu
XM_005246753.2:c.781G>T	XP_005246810.1:p.Val261Leu
XM_005246754.3:c.751G>T	XP_005246811.1:p.Val251Leu
XM_005246755.3:c.28G>T	XP_005246812.1:p.Val10Leu
XM_011511608.1:c.781G>T	XP_011509910.1:p.Val261Leu
XM_011511609.1:c.781G>T	XP_011509911.1:p.Val261Leu
XM_005246753.3:c.781G>T	XP_005246810.1:p.Val261Leu
XM_017004656.1:c.781G>T	XP_016860145.1:p.Val261Leu
XM_017004657.1:c.781G>T	XP_016860146.1:p.Val261Leu
XM_017004658.1:c.28G>T	XP_016860147.1:p.Val10Leu
XM_024453037.1:c.28G>T	XP_024308805.1:p.Val10Leu
NM_001040142.2:c.781G>T MANE Select	NP_001035232.1:p.Val261Leu
NM_001040143.2:c.781G>T	NP_001035233.1:p.Val261Leu
NM_001371246.1:c.781G>T MANE Plus Clinical	NP_001358175.1:p.Val261Leu
NM_001371247.1:c.781G>T	NP_001358176.1:p.Val261Leu
NM_021007.3:c.781G>T	NP_066287.2:p.Val261Leu