Canonical Allele Identifier: CA1304512856
Gene: SCN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165271411_165271418delinsACTCGATG , CM000664.2:g.165271411_165271418delinsACTCGATG GRCh38
NC_000002.11:g.166127921_166127928delinsACTCGATG , CM000664.1:g.166127921_166127928delinsACTCGATG GRCh37
NC_000002.10:g.165836167_165836174delinsACTCGATG NCBI36
NG_008143.1:g.37010_37017delinsACTCGATG

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.-51-24362_-51-24355delinsACTCGATG MANE Plus Clinical ENSP00000486885.1:n.-51-24362_-51-24355de...
ENST00000375437.7:c.-51-24362_-51-24355delinsACTCGATG MANE Select ENSP00000364586.2:n.-51-24362_-51-24355de...
ENST00000635945.1:n.313-24362_313-24355delinsACTCGATG
ENST00000636071.2:c.-51-24362_-51-24355delinsACTCGATG ENSP00000490107.1:n.-51-24362_-51-24355de...
ENST00000636135.1:c.-207-19219_-207-19212delinsACTCGATG ENSP00000489821.1:n.-207-19219_-207-19212...
ENST00000636384.2:c.-51-24362_-51-24355delinsACTCGATG ENSP00000490765.1:n.-51-24362_-51-24355de...
ENST00000636985.2:c.-552-24469_-552-24462delinsACTCGATG ENSP00000490849.1:n.-552-24469_-552-24462...
ENST00000637266.2:c.-51-24362_-51-24355delinsACTCGATG ENSP00000490866.1:n.-51-24362_-51-24355de...
ENST00000637367.1:c.-51-24362_-51-24355delinsACTCGATG ENSP00000490592.1:n.-51-24362_-51-24355de...
ENST00000638151.1:n.141-24469_141-24462delinsACTCGATG
ENST00000640791.1:n.5242_5249delinsACTCGATG
ENST00000375437.6:c.-51-24362_-51-24355delinsACTCGATG ENSP00000364586.2:n.-51-24362_-51-24355de...
ENST00000424833.5:c.-51-24362_-51-24355delinsACTCGATG ENSP00000406454.2:n.-51-24362_-51-24355de...
ENST00000631182.2:c.-51-24362_-51-24355delinsACTCGATG ENSP00000486885.1:n.-51-24362_-51-24355de...
NM_001040142.1:c.-51-24362_-51-24355delinsACTCGATG NP_001035232.1:n.-51-24362_-51-24355delin...
XM_005246750.2:c.-51-24362_-51-24355delinsACTCGATG XP_005246807.1:n.-51-24362_-51-24355delin...
XM_005246753.2:c.-51-24362_-51-24355delinsACTCGATG XP_005246810.1:n.-51-24362_-51-24355delin...
XM_005246754.3:c.27-24469_27-24462delinsACTCGATG XP_005246811.1:n.27-24469_27-24462delinsA...
XM_011511608.1:c.-51-24362_-51-24355delinsACTCGATG XP_011509910.1:n.-51-24362_-51-24355delin...
XM_011511609.1:c.-51-24362_-51-24355delinsACTCGATG XP_011509911.1:n.-51-24362_-51-24355delin...
XM_005246753.3:c.-51-24362_-51-24355delinsACTCGATG XP_005246810.1:n.-51-24362_-51-24355delin...
XM_017004656.1:c.-51-24362_-51-24355delinsACTCGATG XP_016860145.1:n.-51-24362_-51-24355delin...
XM_017004658.1:c.-991-24362_-991-24355delinsACTCGATG XP_016860147.1:n.-991-24362_-991-24355del...
XM_024453037.1:c.-712-24362_-712-24355delinsACTCGATG XP_024308805.1:n.-712-24362_-712-24355del...
NM_001040142.2:c.-51-24362_-51-24355delinsACTCGATG MANE Select NP_001035232.1:n.-51-24362_-51-24355delin...
NM_001040143.2:c.-51-24362_-51-24355delinsACTCGATG NP_001035233.1:n.-51-24362_-51-24355delin...
NM_001371246.1:c.-51-24362_-51-24355delinsACTCGATG MANE Plus Clinical NP_001358175.1:n.-51-24362_-51-24355delin...
NM_001371247.1:c.-51-24362_-51-24355delinsACTCGATG NP_001358176.1:n.-51-24362_-51-24355delin...