Canonical Allele Identifier: CA2753007149

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165309482_165309483dup , CM000664.2:g.165309482_165309483dup	GRCh38
NC_000002.11:g.166165992_166165993dup , CM000664.1:g.166165992_166165993dup	GRCh37
NC_000002.10:g.165874238_165874239dup	NCBI36
NG_008143.1:g.75081_75082dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.697+226_697+227dup MANE Plus Clinical	ENSP00000486885.1:n.697+226_697+227dup
ENST00000375437.7:c.697+39_697+40dup MANE Select	ENSP00000364586.2:n.697+39_697+40dup
ENST00000635945.1:n.1060+39_1060+40dup
ENST00000636071.2:c.697+226_697+227dup	ENSP00000490107.1:n.697+226_697+227dup
ENST00000636135.1:c.568+39_568+40dup	ENSP00000489821.1:n.568+39_568+40dup
ENST00000636384.2:c.697+39_697+40dup	ENSP00000490765.1:n.697+39_697+40dup
ENST00000636662.2:c.*1220+39_*1220+40dup	ENSP00000489873.1:n.*1220+39_*1220+40dup
ENST00000636769.1:c.697+39_697+40dup	ENSP00000490800.1:n.697+39_697+40dup
ENST00000636985.2:c.301+39_301+40dup	ENSP00000490849.1:n.301+39_301+40dup
ENST00000637266.2:c.697+39_697+40dup	ENSP00000490866.1:n.697+39_697+40dup
ENST00000637367.1:c.*630+39_*630+40dup	ENSP00000490592.1:n.*630+39_*630+40dup
ENST00000638151.1:n.781+39_781+40dup
ENST00000283256.10:c.697+39_697+40dup	ENSP00000283256.6:n.697+39_697+40dup
ENST00000375427.4:c.697+226_697+227dup	ENSP00000364576.2:n.697+226_697+227dup
ENST00000375437.6:c.697+39_697+40dup	ENSP00000364586.2:n.697+39_697+40dup
ENST00000424833.5:c.697+39_697+40dup	ENSP00000406454.2:n.697+39_697+40dup
ENST00000480032.4:n.840+39_840+40dup
ENST00000486878.2:c.238+39_238+40dup	ENSP00000487466.1:n.238+39_238+40dup
ENST00000631182.2:c.697+226_697+227dup	ENSP00000486885.1:n.697+226_697+227dup
NM_001040142.1:c.697+39_697+40dup	NP_001035232.1:n.697+39_697+40dup
NM_001040143.1:c.697+226_697+227dup	NP_001035233.1:n.697+226_697+227dup
NM_021007.2:c.697+39_697+40dup	NP_066287.2:n.697+39_697+40dup
XM_005246750.2:c.697+39_697+40dup	XP_005246807.1:n.697+39_697+40dup
XM_005246753.2:c.697+226_697+227dup	XP_005246810.1:n.697+226_697+227dup
XM_005246754.3:c.667+39_667+40dup	XP_005246811.1:n.667+39_667+40dup
XM_005246755.3:c.-57+688_-57+689dup	XP_005246812.1:n.-57+688_-57+689dup
XM_011511608.1:c.697+39_697+40dup	XP_011509910.1:n.697+39_697+40dup
XM_011511609.1:c.697+39_697+40dup	XP_011509911.1:n.697+39_697+40dup
XM_005246753.3:c.697+226_697+227dup	XP_005246810.1:n.697+226_697+227dup
XM_017004656.1:c.697+39_697+40dup	XP_016860145.1:n.697+39_697+40dup
XM_017004657.1:c.697+226_697+227dup	XP_016860146.1:n.697+226_697+227dup
XM_017004658.1:c.-57+39_-57+40dup	XP_016860147.1:n.-57+39_-57+40dup
XM_024453037.1:c.-57+688_-57+689dup	XP_024308805.1:n.-57+688_-57+689dup
NM_001040142.2:c.697+39_697+40dup MANE Select	NP_001035232.1:n.697+39_697+40dup
NM_001040143.2:c.697+226_697+227dup	NP_001035233.1:n.697+226_697+227dup
NM_001371246.1:c.697+226_697+227dup MANE Plus Clinical	NP_001358175.1:n.697+226_697+227dup
NM_001371247.1:c.697+39_697+40dup	NP_001358176.1:n.697+39_697+40dup
NM_021007.3:c.697+39_697+40dup	NP_066287.2:n.697+39_697+40dup