Canonical Allele Identifier: CA1304524669
Community Standard Title: NM_001040142.2(SCN2A):c.304C= (p.Arg102=)
Gene: SCN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165297053C= , CM000664.2:g.165297053C= GRCh38
NC_000002.11:g.166153563C= , CM000664.1:g.166153563C= GRCh37
NC_000002.10:g.165861809C= NCBI36
NG_008143.1:g.62652C=

Transcript Alleles

HGVS Amino-acid Change
NM_001040142.2:c.304C= MANE Select NP_001035232.1:p.Arg102=
ENST00000375437.7:c.304C= MANE Select ENSP00000364586.2:p.Arg102=
NM_001371246.1:c.304C= MANE Plus Clinical NP_001358175.1:p.Arg102=
ENST00000631182.3:c.304C= MANE Plus Clinical ENSP00000486885.1:p.Arg102=
NM_001040142.1:c.304C= NP_001035232.1:p.Arg102=
NM_001040143.1:c.304C= NP_001035233.1:p.Arg102=
NM_001040143.2:c.304C= NP_001035233.1:p.Arg102=
NM_001371247.1:c.304C= NP_001358176.1:p.Arg102=
NM_021007.2:c.304C= NP_066287.2:p.Arg102=
NM_021007.3:c.304C= NP_066287.2:p.Arg102=
ENST00000283256.10:c.304C= ENSP00000283256.6:p.Arg102=
ENST00000375427.4:c.304C= ENSP00000364576.2:p.Arg102=
ENST00000375437.6:c.304C= ENSP00000364586.2:p.Arg102=
ENST00000424833.5:c.304C= ENSP00000406454.2:p.Arg102=
ENST00000480032.4:n.447C=
ENST00000631182.2:c.304C= ENSP00000486885.1:p.Arg102=
ENST00000635945.1:n.667C=
ENST00000636071.2:c.304C= ENSP00000490107.1:p.Arg102=
ENST00000636135.1:c.304C= ENSP00000489821.1:p.Arg102=
ENST00000636384.2:c.304C= ENSP00000490765.1:p.Arg102=
ENST00000636662.2:c.*827C= ENSP00000489873.1:n.*827C=
ENST00000636769.1:c.304C= ENSP00000490800.1:p.Arg102=
ENST00000636985.2:c.-93C= ENSP00000490849.1:n.-93C=
ENST00000637266.2:c.304C= ENSP00000490866.1:p.Arg102=
ENST00000637367.1:c.*237C= ENSP00000490592.1:n.*237C=
ENST00000638151.1:n.388C=
XM_005246750.2:c.304C= XP_005246807.1:p.Arg102=
XM_005246753.2:c.304C= XP_005246810.1:p.Arg102=
XM_005246753.3:c.304C= XP_005246810.1:p.Arg102=
XM_005246754.3:c.274C= XP_005246811.1:p.Arg92=
XM_011511608.1:c.304C= XP_011509910.1:p.Arg102=
XM_011511609.1:c.304C= XP_011509911.1:p.Arg102=
XM_017004656.1:c.304C= XP_016860145.1:p.Arg102=
XM_017004657.1:c.304C= XP_016860146.1:p.Arg102=
XM_017004658.1:c.-637C= XP_016860147.1:n.-637C=
XM_024453037.1:c.-358C= XP_024308805.1:n.-358C=