Canonical Allele Identifier: CA349017420

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 801776
• ClinVar RCV Id: RCV000986850 ; RCV002283516
• dbSNP Id: rs1574556643
• MyVariant Identifiers: chr2:g.166165894T>C (hg19) ; chr2:g.165309384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165309384T>C , CM000664.2:g.165309384T>C	GRCh38
NC_000002.11:g.166165894T>C , CM000664.1:g.166165894T>C	GRCh37
NC_000002.10:g.165874140T>C	NCBI36
NG_008143.1:g.74983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.697+128T>C MANE Plus Clinical	ENSP00000486885.1:n.697+128T>C
ENST00000375437.7:c.638T>C MANE Select	ENSP00000364586.2:p.Val213Ala
ENST00000635945.1:n.1001T>C
ENST00000636071.2:c.697+128T>C	ENSP00000490107.1:n.697+128T>C
ENST00000636135.1:c.509T>C	ENSP00000489821.1:p.Val170Ala
ENST00000636384.2:c.638T>C	ENSP00000490765.1:p.Val213Ala
ENST00000636662.2:c.*1161T>C	ENSP00000489873.1:n.*1161T>C
ENST00000636769.1:c.638T>C	ENSP00000490800.1:p.Val213Ala
ENST00000636985.2:c.242T>C	ENSP00000490849.1:p.Val81Ala
ENST00000637266.2:c.638T>C	ENSP00000490866.1:p.Val213Ala
ENST00000637367.1:c.*571T>C	ENSP00000490592.1:n.*571T>C
ENST00000638151.1:n.722T>C
ENST00000283256.10:c.638T>C	ENSP00000283256.6:p.Val213Ala
ENST00000375427.4:c.697+128T>C	ENSP00000364576.2:n.697+128T>C
ENST00000375437.6:c.638T>C	ENSP00000364586.2:p.Val213Ala
ENST00000424833.5:c.638T>C	ENSP00000406454.2:p.Val213Ala
ENST00000480032.4:n.781T>C
ENST00000486878.2:c.179T>C	ENSP00000487466.1:p.Val60Ala
ENST00000631182.2:c.697+128T>C	ENSP00000486885.1:n.697+128T>C
NM_001040142.1:c.638T>C	NP_001035232.1:p.Val213Ala
NM_001040143.1:c.697+128T>C	NP_001035233.1:n.697+128T>C
NM_021007.2:c.638T>C	NP_066287.2:p.Val213Ala
XM_005246750.2:c.638T>C	XP_005246807.1:p.Val213Ala
XM_005246753.2:c.697+128T>C	XP_005246810.1:n.697+128T>C
XM_005246754.3:c.608T>C	XP_005246811.1:p.Val203Ala
XM_005246755.3:c.-57+590T>C	XP_005246812.1:n.-57+590T>C
XM_011511608.1:c.638T>C	XP_011509910.1:p.Val213Ala
XM_011511609.1:c.638T>C	XP_011509911.1:p.Val213Ala
XM_005246753.3:c.697+128T>C	XP_005246810.1:n.697+128T>C
XM_017004656.1:c.638T>C	XP_016860145.1:p.Val213Ala
XM_017004657.1:c.697+128T>C	XP_016860146.1:n.697+128T>C
XM_017004658.1:c.-116T>C	XP_016860147.1:n.-116T>C
XM_024453037.1:c.-57+590T>C	XP_024308805.1:n.-57+590T>C
NM_001040142.2:c.638T>C MANE Select	NP_001035232.1:p.Val213Ala
NM_001040143.2:c.697+128T>C	NP_001035233.1:n.697+128T>C
NM_001371246.1:c.697+128T>C MANE Plus Clinical	NP_001358175.1:n.697+128T>C
NM_001371247.1:c.638T>C	NP_001358176.1:p.Val213Ala
NM_021007.3:c.638T>C	NP_066287.2:p.Val213Ala