Canonical Allele Identifier: CA16044306
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 375510
ClinVar RCV Id: RCV000416970 RCV001329203
dbSNP Id: rs1057519528
MyVariant Identifiers: chr2:g.166166886G>A (hg19) chr2:g.165310376G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165310376G>A , CM000664.2:g.165310376G>A GRCh38
NC_000002.11:g.166166886G>A , CM000664.1:g.166166886G>A GRCh37
NC_000002.10:g.165875132G>A NCBI36
NG_008143.1:g.75975G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.751G>A MANE Plus Clinical ENSP00000486885.1:p.Val251Ile
ENST00000375437.7:c.751G>A MANE Select ENSP00000364586.2:p.Val251Ile
ENST00000635945.1:n.1114G>A
ENST00000636071.2:c.751G>A ENSP00000490107.1:p.Val251Ile
ENST00000636135.1:c.622G>A ENSP00000489821.1:p.Val208Ile
ENST00000636384.2:c.751G>A ENSP00000490765.1:p.Val251Ile
ENST00000636662.2:c.*1274G>A ENSP00000489873.1:n.*1274G>A
ENST00000636769.1:c.751G>A ENSP00000490800.1:p.Val251Ile
ENST00000636985.2:c.355G>A ENSP00000490849.1:p.Val119Ile
ENST00000637266.2:c.751G>A ENSP00000490866.1:p.Val251Ile
ENST00000637367.1:c.*684G>A ENSP00000490592.1:n.*684G>A
ENST00000638151.1:n.835G>A
ENST00000283256.10:c.751G>A ENSP00000283256.6:p.Val251Ile
ENST00000375427.4:c.751G>A ENSP00000364576.2:p.Val251Ile
ENST00000375437.6:c.751G>A ENSP00000364586.2:p.Val251Ile
ENST00000424833.5:c.751G>A ENSP00000406454.2:p.Val251Ile
ENST00000480032.4:n.894G>A
ENST00000486878.2:c.292G>A ENSP00000487466.1:p.Val98Ile
ENST00000631182.2:c.751G>A ENSP00000486885.1:p.Val251Ile
NM_001040142.1:c.751G>A NP_001035232.1:p.Val251Ile
NM_001040143.1:c.751G>A NP_001035233.1:p.Val251Ile
NM_021007.2:c.751G>A NP_066287.2:p.Val251Ile
XM_005246750.2:c.751G>A XP_005246807.1:p.Val251Ile
XM_005246753.2:c.751G>A XP_005246810.1:p.Val251Ile
XM_005246754.3:c.721G>A XP_005246811.1:p.Val241Ile
XM_005246755.3:c.-3G>A XP_005246812.1:n.-3G>A
XM_011511608.1:c.751G>A XP_011509910.1:p.Val251Ile
XM_011511609.1:c.751G>A XP_011509911.1:p.Val251Ile
XM_005246753.3:c.751G>A XP_005246810.1:p.Val251Ile
XM_017004656.1:c.751G>A XP_016860145.1:p.Val251Ile
XM_017004657.1:c.751G>A XP_016860146.1:p.Val251Ile
XM_017004658.1:c.-3G>A XP_016860147.1:n.-3G>A
XM_024453037.1:c.-3G>A XP_024308805.1:n.-3G>A
NM_001040142.2:c.751G>A MANE Select NP_001035232.1:p.Val251Ile
NM_001040143.2:c.751G>A NP_001035233.1:p.Val251Ile
NM_001371246.1:c.751G>A MANE Plus Clinical NP_001358175.1:p.Val251Ile
NM_001371247.1:c.751G>A NP_001358176.1:p.Val251Ile
NM_021007.3:c.751G>A NP_066287.2:p.Val251Ile
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