Canonical Allele Identifier: CA2843284763

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165380591_165380638del , CM000664.2:g.165380591_165380638del	GRCh38
NC_000002.11:g.166237101_166237148del , CM000664.1:g.166237101_166237148del	GRCh37
NC_000002.10:g.165945347_165945394del	NCBI36
NG_008143.1:g.146190_146237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.4309-1_4355del
ENST00000375437.7:c.4309-1_4355del
ENST00000636071.2:c.4309-1_4355del
ENST00000636135.1:c.*2628-1_*2674del
ENST00000636384.2:c.*2296-1_*2342del
ENST00000636662.2:c.*4832-1_*4878del
ENST00000636769.1:c.*2251-1_*2297del
ENST00000636985.2:c.3913-1_3959del
ENST00000637266.2:c.4309-1_4355del
ENST00000283256.10:c.4309-1_4355del
ENST00000375427.4:c.4309-1_4355del
ENST00000375437.6:c.4309-1_4355del
ENST00000480032.4:n.7377-1_7423del
ENST00000631182.2:c.4309-1_4355del
NM_001040142.1:c.4309-1_4355del
NM_001040143.1:c.4309-1_4355del
NM_021007.2:c.4309-1_4355del
XM_005246750.2:c.4309-1_4355del
XM_005246753.2:c.4309-1_4355del
XM_005246754.3:c.4279-1_4325del
XM_005246755.3:c.3556-1_3602del
XM_011511608.1:c.4309-1_4355del
XM_011511609.1:c.4309-1_4355del
XM_005246753.3:c.4309-1_4355del
XM_017004656.1:c.4309-1_4355del
XM_017004657.1:c.4309-1_4355del
XM_017004658.1:c.3556-1_3602del
XM_017004659.1:c.2107-1_2153del
XM_024453037.1:c.3556-1_3602del
NM_001040142.2:c.4309-1_4355del
NM_001040143.2:c.4309-1_4355del
NM_001371246.1:c.4309-1_4355del
NM_001371247.1:c.4309-1_4355del
NM_021007.3:c.4309-1_4355del