Canonical Allele Identifier: CA16603912
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 390480
ClinVar RCV Id: RCV000438096 RCV001059949
dbSNP Id: rs1057523786
MyVariant Identifiers: chr2:g.166210772A>G (hg19) chr2:g.165354262A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165354262A>G , CM000664.2:g.165354262A>G GRCh38
NC_000002.11:g.166210772A>G , CM000664.1:g.166210772A>G GRCh37
NC_000002.10:g.165919018A>G NCBI36
NG_008143.1:g.119861A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.2990A>G MANE Plus Clinical ENSP00000486885.1:p.Asp997Gly
ENST00000375437.7:c.2990A>G MANE Select ENSP00000364586.2:p.Asp997Gly
ENST00000636071.2:c.2990A>G ENSP00000490107.1:p.Asp997Gly
ENST00000636135.1:c.*1309A>G ENSP00000489821.1:n.*1309A>G
ENST00000636384.2:c.*977A>G ENSP00000490765.1:n.*977A>G
ENST00000636662.2:c.*3513A>G ENSP00000489873.1:n.*3513A>G
ENST00000636769.1:c.*932A>G ENSP00000490800.1:n.*932A>G
ENST00000636985.2:c.2594A>G ENSP00000490849.1:p.Asp865Gly
ENST00000637266.2:c.2990A>G ENSP00000490866.1:p.Asp997Gly
ENST00000673831.1:c.736A>G ENSP00000501305.1:n.736A>G
ENST00000673883.1:c.555A>G ENSP00000501309.1:n.555A>G
ENST00000674133.1:c.841A>G
ENST00000283256.10:c.2990A>G ENSP00000283256.6:p.Asp997Gly
ENST00000375427.4:c.2990A>G ENSP00000364576.2:p.Asp997Gly
ENST00000375437.6:c.2990A>G ENSP00000364586.2:p.Asp997Gly
ENST00000480032.4:n.3133A>G
ENST00000631182.2:c.2990A>G ENSP00000486885.1:p.Asp997Gly
NM_001040142.1:c.2990A>G NP_001035232.1:p.Asp997Gly
NM_001040143.1:c.2990A>G NP_001035233.1:p.Asp997Gly
NM_021007.2:c.2990A>G NP_066287.2:p.Asp997Gly
XM_005246750.2:c.2990A>G XP_005246807.1:p.Asp997Gly
XM_005246753.2:c.2990A>G XP_005246810.1:p.Asp997Gly
XM_005246754.3:c.2960A>G XP_005246811.1:p.Asp987Gly
XM_005246755.3:c.2237A>G XP_005246812.1:p.Asp746Gly
XM_011511608.1:c.2990A>G XP_011509910.1:p.Asp997Gly
XM_011511609.1:c.2990A>G XP_011509911.1:p.Asp997Gly
XM_005246753.3:c.2990A>G XP_005246810.1:p.Asp997Gly
XM_017004656.1:c.2990A>G XP_016860145.1:p.Asp997Gly
XM_017004657.1:c.2990A>G XP_016860146.1:p.Asp997Gly
XM_017004658.1:c.2237A>G XP_016860147.1:p.Asp746Gly
XM_017004659.1:c.788A>G XP_016860148.1:p.Asp263Gly
XM_024453037.1:c.2237A>G XP_024308805.1:p.Asp746Gly
NM_001040142.2:c.2990A>G MANE Select NP_001035232.1:p.Asp997Gly
NM_001040143.2:c.2990A>G NP_001035233.1:p.Asp997Gly
NM_001371246.1:c.2990A>G MANE Plus Clinical NP_001358175.1:p.Asp997Gly
NM_001371247.1:c.2990A>G NP_001358176.1:p.Asp997Gly
NM_021007.3:c.2990A>G NP_066287.2:p.Asp997Gly
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