Canonical Allele Identifier: CA59728180

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 2929780
• ClinVar RCV Id: RCV003784946
• dbSNP Id: rs1038389455
• gnomAD v4: 2-165309392-T-C
• COSMIC: COSM3312314
• MyVariant Identifiers: chr2:g.166165902T>C (hg19) ; chr2:g.165309392T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165309392T>C , CM000664.2:g.165309392T>C	GRCh38
NC_000002.11:g.166165902T>C , CM000664.1:g.166165902T>C	GRCh37
NC_000002.10:g.165874148T>C	NCBI36
NG_008143.1:g.74991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.697+136T>C MANE Plus Clinical	ENSP00000486885.1:n.697+136T>C
ENST00000375437.7:c.646T>C MANE Select	ENSP00000364586.2:p.Leu216=
ENST00000635945.1:n.1009T>C
ENST00000636071.2:c.697+136T>C	ENSP00000490107.1:n.697+136T>C
ENST00000636135.1:c.517T>C	ENSP00000489821.1:p.Leu173=
ENST00000636384.2:c.646T>C	ENSP00000490765.1:p.Leu216=
ENST00000636662.2:c.*1169T>C	ENSP00000489873.1:n.*1169T>C
ENST00000636769.1:c.646T>C	ENSP00000490800.1:p.Leu216=
ENST00000636985.2:c.250T>C	ENSP00000490849.1:p.Leu84=
ENST00000637266.2:c.646T>C	ENSP00000490866.1:p.Leu216=
ENST00000637367.1:c.*579T>C	ENSP00000490592.1:n.*579T>C
ENST00000638151.1:n.730T>C
ENST00000283256.10:c.646T>C	ENSP00000283256.6:p.Leu216=
ENST00000375427.4:c.697+136T>C	ENSP00000364576.2:n.697+136T>C
ENST00000375437.6:c.646T>C	ENSP00000364586.2:p.Leu216=
ENST00000424833.5:c.646T>C	ENSP00000406454.2:p.Leu216=
ENST00000480032.4:n.789T>C
ENST00000486878.2:c.187T>C	ENSP00000487466.1:p.Leu63=
ENST00000631182.2:c.697+136T>C	ENSP00000486885.1:n.697+136T>C
NM_001040142.1:c.646T>C	NP_001035232.1:p.Leu216=
NM_001040143.1:c.697+136T>C	NP_001035233.1:n.697+136T>C
NM_021007.2:c.646T>C	NP_066287.2:p.Leu216=
XM_005246750.2:c.646T>C	XP_005246807.1:p.Leu216=
XM_005246753.2:c.697+136T>C	XP_005246810.1:n.697+136T>C
XM_005246754.3:c.616T>C	XP_005246811.1:p.Leu206=
XM_005246755.3:c.-57+598T>C	XP_005246812.1:n.-57+598T>C
XM_011511608.1:c.646T>C	XP_011509910.1:p.Leu216=
XM_011511609.1:c.646T>C	XP_011509911.1:p.Leu216=
XM_005246753.3:c.697+136T>C	XP_005246810.1:n.697+136T>C
XM_017004656.1:c.646T>C	XP_016860145.1:p.Leu216=
XM_017004657.1:c.697+136T>C	XP_016860146.1:n.697+136T>C
XM_017004658.1:c.-108T>C	XP_016860147.1:n.-108T>C
XM_024453037.1:c.-57+598T>C	XP_024308805.1:n.-57+598T>C
NM_001040142.2:c.646T>C MANE Select	NP_001035232.1:p.Leu216=
NM_001040143.2:c.697+136T>C	NP_001035233.1:n.697+136T>C
NM_001371246.1:c.697+136T>C MANE Plus Clinical	NP_001358175.1:n.697+136T>C
NM_001371247.1:c.646T>C	NP_001358176.1:p.Leu216=
NM_021007.3:c.646T>C	NP_066287.2:p.Leu216=