Canonical Allele Identifier: CA16603920

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 379254
• ClinVar RCV Id: RCV000444205 ; RCV001265495 ; RCV001252614 ; RCV001848749 ; RCV003989530
• dbSNP Id: rs121917753
• MyVariant Identifiers: chr2:g.166229841G>T (hg19) ; chr2:g.165373331G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165373331G>T , CM000664.2:g.165373331G>T	GRCh38
NC_000002.11:g.166229841G>T , CM000664.1:g.166229841G>T	GRCh37
NC_000002.10:g.165938087G>T	NCBI36
NG_008143.1:g.138930G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3956G>T MANE Plus Clinical	ENSP00000486885.1:p.Arg1319Leu
ENST00000375437.7:c.3956G>T MANE Select	ENSP00000364586.2:p.Arg1319Leu
ENST00000636071.2:c.3956G>T	ENSP00000490107.1:p.Arg1319Leu
ENST00000636135.1:c.*2275G>T	ENSP00000489821.1:n.*2275G>T
ENST00000636384.2:c.*1943G>T	ENSP00000490765.1:n.*1943G>T
ENST00000636662.2:c.*4479G>T	ENSP00000489873.1:n.*4479G>T
ENST00000636769.1:c.*1898G>T	ENSP00000490800.1:n.*1898G>T
ENST00000636985.2:c.3560G>T	ENSP00000490849.1:p.Arg1187Leu
ENST00000637266.2:c.3956G>T	ENSP00000490866.1:p.Arg1319Leu
ENST00000283256.10:c.3956G>T	ENSP00000283256.6:p.Arg1319Leu
ENST00000375427.4:c.3956G>T	ENSP00000364576.2:p.Arg1319Leu
ENST00000375437.6:c.3956G>T	ENSP00000364586.2:p.Arg1319Leu
ENST00000480032.4:n.7024G>T
ENST00000631182.2:c.3956G>T	ENSP00000486885.1:p.Arg1319Leu
NM_001040142.1:c.3956G>T	NP_001035232.1:p.Arg1319Leu
NM_001040143.1:c.3956G>T	NP_001035233.1:p.Arg1319Leu
NM_021007.2:c.3956G>T	NP_066287.2:p.Arg1319Leu
XM_005246750.2:c.3956G>T	XP_005246807.1:p.Arg1319Leu
XM_005246753.2:c.3956G>T	XP_005246810.1:p.Arg1319Leu
XM_005246754.3:c.3926G>T	XP_005246811.1:p.Arg1309Leu
XM_005246755.3:c.3203G>T	XP_005246812.1:p.Arg1068Leu
XM_011511608.1:c.3956G>T	XP_011509910.1:p.Arg1319Leu
XM_011511609.1:c.3956G>T	XP_011509911.1:p.Arg1319Leu
XM_005246753.3:c.3956G>T	XP_005246810.1:p.Arg1319Leu
XM_017004656.1:c.3956G>T	XP_016860145.1:p.Arg1319Leu
XM_017004657.1:c.3956G>T	XP_016860146.1:p.Arg1319Leu
XM_017004658.1:c.3203G>T	XP_016860147.1:p.Arg1068Leu
XM_017004659.1:c.1754G>T	XP_016860148.1:p.Arg585Leu
XM_024453037.1:c.3203G>T	XP_024308805.1:p.Arg1068Leu
NM_001040142.2:c.3956G>T MANE Select	NP_001035232.1:p.Arg1319Leu
NM_001040143.2:c.3956G>T	NP_001035233.1:p.Arg1319Leu
NM_001371246.1:c.3956G>T MANE Plus Clinical	NP_001358175.1:p.Arg1319Leu
NM_001371247.1:c.3956G>T	NP_001358176.1:p.Arg1319Leu
NM_021007.3:c.3956G>T	NP_066287.2:p.Arg1319Leu