Canonical Allele Identifier: CA2546252712
Gene: SCN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165386936_165386937insTCAAAGACTTGTTTGGTTACAAAATCAAAG , CM000664.2:g.165386936_165386937insTCAAAGACTTGTTTGGTTACAAAATCAAAG GRCh38
NC_000002.11:g.166243446_166243447insTCAAAGACTTGTTTGGTTACAAAATCAAAG , CM000664.1:g.166243446_166243447insTCAAAGACTTGTTTGGTTACAAAATCAAAG GRCh37
NC_000002.10:g.165951692_165951693insTCAAAGACTTGTTTGGTTACAAAATCAAAG NCBI36
NG_008143.1:g.152535_152536insTCAAAGACTTGTTTGGTTACAAAATCAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000631182.3:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG MANE Plus Clinical ENSP00000486885.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnG...
ENST00000375437.7:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG MANE Select ENSP00000364586.2:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnG...
ENST00000636071.2:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000490107.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnG...
ENST00000636135.1:c.*3061_*3062insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000489821.1:n.*3061_*3062insTCAAAGACTTGTTTGGTTACAAAATCA...
ENST00000636384.2:c.*2729_*2730insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000490765.1:n.*2729_*2730insTCAAAGACTTGTTTGGTTACAAAATCA...
ENST00000636662.2:c.*5265_*5266insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000489873.1:n.*5265_*5266insTCAAAGACTTGTTTGGTTACAAAATCA...
ENST00000636769.1:c.*2684_*2685insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000490800.1:n.*2684_*2685insTCAAAGACTTGTTTGGTTACAAAATCA...
ENST00000636985.2:c.4346_4347insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000490849.1:p.Lys1449delinsAsnGlnArgLeuValTrpLeuGlnAsnG...
ENST00000637266.2:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000490866.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnG...
ENST00000283256.10:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000283256.6:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnG...
ENST00000375427.4:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000364576.2:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnG...
ENST00000375437.6:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000364586.2:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnG...
ENST00000480032.4:n.8173_8174insTCAAAGACTTGTTTGGTTACAAAATCAAAG
ENST00000631182.2:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG ENSP00000486885.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnG...
NM_001040142.1:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG NP_001035232.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
NM_001040143.1:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG NP_001035233.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
NM_021007.2:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG NP_066287.2:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg
XM_005246750.2:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_005246807.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
XM_005246753.2:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_005246810.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
XM_005246754.3:c.4712_4713insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_005246811.1:p.Lys1571delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
XM_005246755.3:c.3989_3990insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_005246812.1:p.Lys1330delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
XM_011511608.1:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_011509910.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
XM_011511609.1:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_011509911.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
XM_005246753.3:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_005246810.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
XM_017004656.1:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_016860145.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
XM_017004657.1:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_016860146.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
XM_017004658.1:c.3989_3990insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_016860147.1:p.Lys1330delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
XM_017004659.1:c.2540_2541insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_016860148.1:p.Lys847delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnAr...
XM_024453037.1:c.3989_3990insTCAAAGACTTGTTTGGTTACAAAATCAAAG XP_024308805.1:p.Lys1330delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
NM_001040142.2:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG MANE Select NP_001035232.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
NM_001040143.2:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG NP_001035233.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
NM_001371246.1:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG MANE Plus Clinical NP_001358175.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
NM_001371247.1:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG NP_001358176.1:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnA...
NM_021007.3:c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG NP_066287.2:p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg