Canonical Allele Identifier: CA349019403
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 994949
ClinVar RCV Id: RCV001288733
dbSNP Id: rs1700069190

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165354211C>G , CM000664.2:g.165354211C>G GRCh38
NC_000002.11:g.166210721C>G , CM000664.1:g.166210721C>G GRCh37
NC_000002.10:g.165918967C>G NCBI36
NG_008143.1:g.119810C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000631182.3:c.2939C>G MANE Plus Clinical ENSP00000486885.1:p.Ala980Gly
ENST00000375437.7:c.2939C>G MANE Select ENSP00000364586.2:p.Ala980Gly
ENST00000636071.2:c.2939C>G ENSP00000490107.1:p.Ala980Gly
ENST00000636135.1:c.*1258C>G ENSP00000489821.1:n.*1258C>G
ENST00000636384.2:c.*926C>G ENSP00000490765.1:n.*926C>G
ENST00000636662.2:c.*3462C>G ENSP00000489873.1:n.*3462C>G
ENST00000636769.1:c.*881C>G ENSP00000490800.1:n.*881C>G
ENST00000636985.2:c.2543C>G ENSP00000490849.1:p.Ala848Gly
ENST00000637266.2:c.2939C>G ENSP00000490866.1:p.Ala980Gly
ENST00000673831.1:c.685C>G ENSP00000501305.1:n.685C>G
ENST00000673883.1:c.504C>G ENSP00000501309.1:n.504C>G
ENST00000674133.1:c.790C>G
ENST00000283256.10:c.2939C>G ENSP00000283256.6:p.Ala980Gly
ENST00000375427.4:c.2939C>G ENSP00000364576.2:p.Ala980Gly
ENST00000375437.6:c.2939C>G ENSP00000364586.2:p.Ala980Gly
ENST00000480032.4:n.3082C>G
ENST00000631182.2:c.2939C>G ENSP00000486885.1:p.Ala980Gly
NM_001040142.1:c.2939C>G NP_001035232.1:p.Ala980Gly
NM_001040143.1:c.2939C>G NP_001035233.1:p.Ala980Gly
NM_021007.2:c.2939C>G NP_066287.2:p.Ala980Gly
XM_005246750.2:c.2939C>G XP_005246807.1:p.Ala980Gly
XM_005246753.2:c.2939C>G XP_005246810.1:p.Ala980Gly
XM_005246754.3:c.2909C>G XP_005246811.1:p.Ala970Gly
XM_005246755.3:c.2186C>G XP_005246812.1:p.Ala729Gly
XM_011511608.1:c.2939C>G XP_011509910.1:p.Ala980Gly
XM_011511609.1:c.2939C>G XP_011509911.1:p.Ala980Gly
XM_005246753.3:c.2939C>G XP_005246810.1:p.Ala980Gly
XM_017004656.1:c.2939C>G XP_016860145.1:p.Ala980Gly
XM_017004657.1:c.2939C>G XP_016860146.1:p.Ala980Gly
XM_017004658.1:c.2186C>G XP_016860147.1:p.Ala729Gly
XM_017004659.1:c.737C>G XP_016860148.1:p.Ala246Gly
XM_024453037.1:c.2186C>G XP_024308805.1:p.Ala729Gly
NM_001040142.2:c.2939C>G MANE Select NP_001035232.1:p.Ala980Gly
NM_001040143.2:c.2939C>G NP_001035233.1:p.Ala980Gly
NM_001371246.1:c.2939C>G MANE Plus Clinical NP_001358175.1:p.Ala980Gly
NM_001371247.1:c.2939C>G NP_001358176.1:p.Ala980Gly
NM_021007.3:c.2939C>G NP_066287.2:p.Ala980Gly