Canonical Allele Identifier: CA349017446

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 2444039
• ClinVar RCV Id: RCV003152837
• MyVariant Identifiers: chr2:g.166165903T>C (hg19) ; chr2:g.165309393T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165309393T>C , CM000664.2:g.165309393T>C	GRCh38
NC_000002.11:g.166165903T>C , CM000664.1:g.166165903T>C	GRCh37
NC_000002.10:g.165874149T>C	NCBI36
NG_008143.1:g.74992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.697+137T>C MANE Plus Clinical	ENSP00000486885.1:n.697+137T>C
ENST00000375437.7:c.647T>C MANE Select	ENSP00000364586.2:p.Leu216Ser
ENST00000635945.1:n.1010T>C
ENST00000636071.2:c.697+137T>C	ENSP00000490107.1:n.697+137T>C
ENST00000636135.1:c.518T>C	ENSP00000489821.1:p.Leu173Ser
ENST00000636384.2:c.647T>C	ENSP00000490765.1:p.Leu216Ser
ENST00000636662.2:c.*1170T>C	ENSP00000489873.1:n.*1170T>C
ENST00000636769.1:c.647T>C	ENSP00000490800.1:p.Leu216Ser
ENST00000636985.2:c.251T>C	ENSP00000490849.1:p.Leu84Ser
ENST00000637266.2:c.647T>C	ENSP00000490866.1:p.Leu216Ser
ENST00000637367.1:c.*580T>C	ENSP00000490592.1:n.*580T>C
ENST00000638151.1:n.731T>C
ENST00000283256.10:c.647T>C	ENSP00000283256.6:p.Leu216Ser
ENST00000375427.4:c.697+137T>C	ENSP00000364576.2:n.697+137T>C
ENST00000375437.6:c.647T>C	ENSP00000364586.2:p.Leu216Ser
ENST00000424833.5:c.647T>C	ENSP00000406454.2:p.Leu216Ser
ENST00000480032.4:n.790T>C
ENST00000486878.2:c.188T>C	ENSP00000487466.1:p.Leu63Ser
ENST00000631182.2:c.697+137T>C	ENSP00000486885.1:n.697+137T>C
NM_001040142.1:c.647T>C	NP_001035232.1:p.Leu216Ser
NM_001040143.1:c.697+137T>C	NP_001035233.1:n.697+137T>C
NM_021007.2:c.647T>C	NP_066287.2:p.Leu216Ser
XM_005246750.2:c.647T>C	XP_005246807.1:p.Leu216Ser
XM_005246753.2:c.697+137T>C	XP_005246810.1:n.697+137T>C
XM_005246754.3:c.617T>C	XP_005246811.1:p.Leu206Ser
XM_005246755.3:c.-57+599T>C	XP_005246812.1:n.-57+599T>C
XM_011511608.1:c.647T>C	XP_011509910.1:p.Leu216Ser
XM_011511609.1:c.647T>C	XP_011509911.1:p.Leu216Ser
XM_005246753.3:c.697+137T>C	XP_005246810.1:n.697+137T>C
XM_017004656.1:c.647T>C	XP_016860145.1:p.Leu216Ser
XM_017004657.1:c.697+137T>C	XP_016860146.1:n.697+137T>C
XM_017004658.1:c.-107T>C	XP_016860147.1:n.-107T>C
XM_024453037.1:c.-57+599T>C	XP_024308805.1:n.-57+599T>C
NM_001040142.2:c.647T>C MANE Select	NP_001035232.1:p.Leu216Ser
NM_001040143.2:c.697+137T>C	NP_001035233.1:n.697+137T>C
NM_001371246.1:c.697+137T>C MANE Plus Clinical	NP_001358175.1:n.697+137T>C
NM_001371247.1:c.647T>C	NP_001358176.1:p.Leu216Ser
NM_021007.3:c.647T>C	NP_066287.2:p.Leu216Ser