Canonical Allele Identifier: CA1304555262

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165367173_165367175delinsCAA , CM000664.2:g.165367173_165367175delinsCAA	GRCh38
NC_000002.11:g.166223683_166223685delinsCAA , CM000664.1:g.166223683_166223685delinsCAA	GRCh37
NC_000002.10:g.165931929_165931931delinsCAA	NCBI36
NG_008143.1:g.132772_132774delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
NM_001040142.2:c.3521-44_3521-42delinsCAA MANE Select	NP_001035232.1:n.3521-44_3521-42delinsCAA
ENST00000375437.7:c.3521-44_3521-42delinsCAA MANE Select	ENSP00000364586.2:n.3521-44_3521-42delinsCAA
NM_001371246.1:c.3521-44_3521-42delinsCAA MANE Plus Clinical	NP_001358175.1:n.3521-44_3521-42delinsCAA
ENST00000631182.3:c.3521-44_3521-42delinsCAA MANE Plus Clinical	ENSP00000486885.1:n.3521-44_3521-42delinsCAA
NM_001040142.1:c.3521-44_3521-42delinsCAA	NP_001035232.1:n.3521-44_3521-42delinsCAA
NM_001040143.1:c.3521-44_3521-42delinsCAA	NP_001035233.1:n.3521-44_3521-42delinsCAA
NM_001040143.2:c.3521-44_3521-42delinsCAA	NP_001035233.1:n.3521-44_3521-42delinsCAA
NM_001371247.1:c.3521-44_3521-42delinsCAA	NP_001358176.1:n.3521-44_3521-42delinsCAA
NM_021007.2:c.3521-44_3521-42delinsCAA	NP_066287.2:n.3521-44_3521-42delinsCAA
NM_021007.3:c.3521-44_3521-42delinsCAA	NP_066287.2:n.3521-44_3521-42delinsCAA
ENST00000283256.10:c.3521-44_3521-42delinsCAA	ENSP00000283256.6:n.3521-44_3521-42delinsCAA
ENST00000375427.4:c.3521-44_3521-42delinsCAA	ENSP00000364576.2:n.3521-44_3521-42delinsCAA
ENST00000375437.6:c.3521-44_3521-42delinsCAA	ENSP00000364586.2:n.3521-44_3521-42delinsCAA
ENST00000480032.4:n.3664-44_3664-42delinsCAA
ENST00000631182.2:c.3521-44_3521-42delinsCAA	ENSP00000486885.1:n.3521-44_3521-42delinsCAA
ENST00000636071.2:c.3521-44_3521-42delinsCAA	ENSP00000490107.1:n.3521-44_3521-42delinsCAA
ENST00000636135.1:c.*1840-44_*1840-42delinsCAA	ENSP00000489821.1:n.*1840-44_*1840-42delinsCAA
ENST00000636384.2:c.*1508-44_*1508-42delinsCAA	ENSP00000490765.1:n.*1508-44_*1508-42delinsCAA
ENST00000636662.2:c.*4044-44_*4044-42delinsCAA	ENSP00000489873.1:n.*4044-44_*4044-42delinsCAA
ENST00000636769.1:c.*1463-44_*1463-42delinsCAA	ENSP00000490800.1:n.*1463-44_*1463-42delinsCAA
ENST00000636985.2:c.3125-44_3125-42delinsCAA	ENSP00000490849.1:n.3125-44_3125-42delinsCAA
ENST00000637266.2:c.3521-44_3521-42delinsCAA	ENSP00000490866.1:n.3521-44_3521-42delinsCAA
XM_005246750.2:c.3521-44_3521-42delinsCAA	XP_005246807.1:n.3521-44_3521-42delinsCAA
XM_005246753.2:c.3521-44_3521-42delinsCAA	XP_005246810.1:n.3521-44_3521-42delinsCAA
XM_005246753.3:c.3521-44_3521-42delinsCAA	XP_005246810.1:n.3521-44_3521-42delinsCAA
XM_005246754.3:c.3491-44_3491-42delinsCAA	XP_005246811.1:n.3491-44_3491-42delinsCAA
XM_005246755.3:c.2768-44_2768-42delinsCAA	XP_005246812.1:n.2768-44_2768-42delinsCAA
XM_011511608.1:c.3521-44_3521-42delinsCAA	XP_011509910.1:n.3521-44_3521-42delinsCAA
XM_011511609.1:c.3521-44_3521-42delinsCAA	XP_011509911.1:n.3521-44_3521-42delinsCAA
XM_017004656.1:c.3521-44_3521-42delinsCAA	XP_016860145.1:n.3521-44_3521-42delinsCAA
XM_017004657.1:c.3521-44_3521-42delinsCAA	XP_016860146.1:n.3521-44_3521-42delinsCAA
XM_017004658.1:c.2768-44_2768-42delinsCAA	XP_016860147.1:n.2768-44_2768-42delinsCAA
XM_017004659.1:c.1319-44_1319-42delinsCAA	XP_016860148.1:n.1319-44_1319-42delinsCAA
XM_024453037.1:c.2768-44_2768-42delinsCAA	XP_024308805.1:n.2768-44_2768-42delinsCAA