Canonical Allele Identifier: CA1304524168
Gene: SCN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165295879G= , CM000664.2:g.165295879G= GRCh38
NC_000002.11:g.166152389G= , CM000664.1:g.166152389G= GRCh37
NC_000002.10:g.165860635G= NCBI36
NG_008143.1:g.61478G=

Transcript Alleles

HGVS Amino-acid Change
NM_001040142.2:c.56G= MANE Select NP_001035232.1:p.Arg19=
ENST00000375437.7:c.56G= MANE Select ENSP00000364586.2:p.Arg19=
NM_001371246.1:c.56G= MANE Plus Clinical NP_001358175.1:p.Arg19=
ENST00000631182.3:c.56G= MANE Plus Clinical ENSP00000486885.1:p.Arg19=
NM_001040142.1:c.56G= NP_001035232.1:p.Arg19=
NM_001040143.1:c.56G= NP_001035233.1:p.Arg19=
NM_001040143.2:c.56G= NP_001035233.1:p.Arg19=
NM_001371247.1:c.56G= NP_001358176.1:p.Arg19=
NM_021007.2:c.56G= NP_066287.2:p.Arg19=
NM_021007.3:c.56G= NP_066287.2:p.Arg19=
ENST00000283256.10:c.56G= ENSP00000283256.6:p.Arg19=
ENST00000375427.4:c.56G= ENSP00000364576.2:p.Arg19=
ENST00000375437.6:c.56G= ENSP00000364586.2:p.Arg19=
ENST00000424833.5:c.56G= ENSP00000406454.2:p.Arg19=
ENST00000480032.4:n.199G=
ENST00000631182.2:c.56G= ENSP00000486885.1:p.Arg19=
ENST00000635945.1:n.419G=
ENST00000636071.2:c.56G= ENSP00000490107.1:p.Arg19=
ENST00000636135.1:c.56G= ENSP00000489821.1:p.Arg19=
ENST00000636384.2:c.56G= ENSP00000490765.1:p.Arg19=
ENST00000636662.2:c.56G= ENSP00000489873.1:p.Arg19=
ENST00000636769.1:c.56G= ENSP00000490800.1:p.Arg19=
ENST00000636985.2:c.-552-1G= ENSP00000490849.1:n.-552-1G=
ENST00000637266.2:c.56G= ENSP00000490866.1:p.Arg19=
ENST00000637367.1:c.56G= ENSP00000490592.1:p.Arg19=
ENST00000638151.1:n.141-1G=
XM_005246750.2:c.56G= XP_005246807.1:p.Arg19=
XM_005246753.2:c.56G= XP_005246810.1:p.Arg19=
XM_005246753.3:c.56G= XP_005246810.1:p.Arg19=
XM_005246754.3:c.27-1G= XP_005246811.1:n.27-1G=
XM_011511608.1:c.56G= XP_011509910.1:p.Arg19=
XM_011511609.1:c.56G= XP_011509911.1:p.Arg19=
XM_017004656.1:c.56G= XP_016860145.1:p.Arg19=
XM_017004657.1:c.56G= XP_016860146.1:p.Arg19=
XM_017004658.1:c.-885G= XP_016860147.1:n.-885G=
XM_024453037.1:c.-606G= XP_024308805.1:n.-606G=