Canonical Allele Identifier: CA1940030
Gene: SCN2A HGNC NCBI

Linked Data

dbSNP Id: rs746163041

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165344869C>T , CM000664.2:g.165344869C>T GRCh38
NC_000002.11:g.166201379C>T , CM000664.1:g.166201379C>T GRCh37
NC_000002.10:g.165909625C>T NCBI36
NG_008143.1:g.110468C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.2877C>T MANE Plus Clinical ENSP00000486885.1:p.Cys959=
ENST00000375437.7:c.2877C>T MANE Select ENSP00000364586.2:p.Cys959=
ENST00000636071.2:c.2877C>T ENSP00000490107.1:p.Cys959=
ENST00000636135.1:c.*1196C>T ENSP00000489821.1:n.*1196C>T
ENST00000636384.2:c.*864C>T ENSP00000490765.1:n.*864C>T
ENST00000636662.2:c.*3400C>T ENSP00000489873.1:n.*3400C>T
ENST00000636769.1:c.*819C>T ENSP00000490800.1:n.*819C>T
ENST00000636985.2:c.2481C>T ENSP00000490849.1:p.Cys827=
ENST00000637266.2:c.2877C>T ENSP00000490866.1:p.Cys959=
ENST00000673831.1:n.315C>T ENSP00000501305.1:p.Cys105=
ENST00000673883.1:n.315C>T ENSP00000501309.1:p.Cys105=
ENST00000674133.1:n.728C>T
ENST00000283256.10:c.2877C>T ENSP00000283256.6:p.Cys959=
ENST00000375427.4:c.2877C>T ENSP00000364576.2:p.Cys959=
ENST00000375437.6:c.2877C>T ENSP00000364586.2:p.Cys959=
ENST00000480032.4:n.3020C>T
ENST00000631182.2:c.2877C>T ENSP00000486885.1:p.Cys959=
NM_001040142.1:c.2877C>T NP_001035232.1:p.Cys959=
NM_001040143.1:c.2877C>T NP_001035233.1:p.Cys959=
NM_021007.2:c.2877C>T NP_066287.2:p.Cys959=
XM_005246750.2:c.2877C>T XP_005246807.1:p.Cys959=
XM_005246753.2:c.2877C>T XP_005246810.1:p.Cys959=
XM_005246754.3:c.2847C>T XP_005246811.1:p.Cys949=
XM_005246755.3:c.2124C>T XP_005246812.1:p.Cys708=
XM_011511608.1:c.2877C>T XP_011509910.1:p.Cys959=
XM_011511609.1:c.2877C>T XP_011509911.1:p.Cys959=
XM_005246753.3:c.2877C>T XP_005246810.1:p.Cys959=
XM_017004656.1:c.2877C>T XP_016860145.1:p.Cys959=
XM_017004657.1:c.2877C>T XP_016860146.1:p.Cys959=
XM_017004658.1:c.2124C>T XP_016860147.1:p.Cys708=
XM_017004659.1:c.675C>T XP_016860148.1:p.Cys225=
XM_024453037.1:c.2124C>T XP_024308805.1:p.Cys708=
NM_001040142.2:c.2877C>T MANE Select NP_001035232.1:p.Cys959=
NM_001040143.2:c.2877C>T NP_001035233.1:p.Cys959=
NM_001371246.1:c.2877C>T MANE Plus Clinical NP_001358175.1:p.Cys959=
NM_001371247.1:c.2877C>T NP_001358176.1:p.Cys959=
NM_021007.3:c.2877C>T NP_066287.2:p.Cys959=