Canonical Allele Identifier: CA1304545408

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165344482_165344483delinsAT , CM000664.2:g.165344482_165344483delinsAT	GRCh38
NC_000002.11:g.166200992_166200993delinsAT , CM000664.1:g.166200992_166200993delinsAT	GRCh37
NC_000002.10:g.165909238_165909239delinsAT	NCBI36
NG_008143.1:g.110081_110082delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.2563-73_2563-72delinsAT MANE Plus Clinical	ENSP00000486885.1:n.2563-73_2563-72delinsAT
ENST00000375437.7:c.2563-73_2563-72delinsAT MANE Select	ENSP00000364586.2:n.2563-73_2563-72delinsAT
ENST00000636071.2:c.2563-73_2563-72delinsAT	ENSP00000490107.1:n.2563-73_2563-72delinsAT
ENST00000636135.1:c.*882-73_*882-72delinsAT	ENSP00000489821.1:n.*882-73_*882-72delinsAT
ENST00000636384.2:c.*550-73_*550-72delinsAT	ENSP00000490765.1:n.*550-73_*550-72delinsAT
ENST00000636662.2:c.*3086-73_*3086-72delinsAT	ENSP00000489873.1:n.*3086-73_*3086-72delinsAT
ENST00000636769.1:c.*505-73_*505-72delinsAT	ENSP00000490800.1:n.*505-73_*505-72delinsAT
ENST00000636985.2:c.2167-73_2167-72delinsAT	ENSP00000490849.1:n.2167-73_2167-72delinsAT
ENST00000637266.2:c.2563-73_2563-72delinsAT	ENSP00000490866.1:n.2563-73_2563-72delinsAT
ENST00000674133.1:c.414-73_414-72delinsAT
ENST00000283256.10:c.2563-73_2563-72delinsAT	ENSP00000283256.6:n.2563-73_2563-72delinsAT
ENST00000375427.4:c.2563-73_2563-72delinsAT	ENSP00000364576.2:n.2563-73_2563-72delinsAT
ENST00000375437.6:c.2563-73_2563-72delinsAT	ENSP00000364586.2:n.2563-73_2563-72delinsAT
ENST00000480032.4:n.2706-73_2706-72delinsAT
ENST00000631182.2:c.2563-73_2563-72delinsAT	ENSP00000486885.1:n.2563-73_2563-72delinsAT
NM_001040142.1:c.2563-73_2563-72delinsAT	NP_001035232.1:n.2563-73_2563-72delinsAT
NM_001040143.1:c.2563-73_2563-72delinsAT	NP_001035233.1:n.2563-73_2563-72delinsAT
NM_021007.2:c.2563-73_2563-72delinsAT	NP_066287.2:n.2563-73_2563-72delinsAT
XM_005246750.2:c.2563-73_2563-72delinsAT	XP_005246807.1:n.2563-73_2563-72delinsAT
XM_005246753.2:c.2563-73_2563-72delinsAT	XP_005246810.1:n.2563-73_2563-72delinsAT
XM_005246754.3:c.2533-73_2533-72delinsAT	XP_005246811.1:n.2533-73_2533-72delinsAT
XM_005246755.3:c.1810-73_1810-72delinsAT	XP_005246812.1:n.1810-73_1810-72delinsAT
XM_011511608.1:c.2563-73_2563-72delinsAT	XP_011509910.1:n.2563-73_2563-72delinsAT
XM_011511609.1:c.2563-73_2563-72delinsAT	XP_011509911.1:n.2563-73_2563-72delinsAT
XM_005246753.3:c.2563-73_2563-72delinsAT	XP_005246810.1:n.2563-73_2563-72delinsAT
XM_017004656.1:c.2563-73_2563-72delinsAT	XP_016860145.1:n.2563-73_2563-72delinsAT
XM_017004657.1:c.2563-73_2563-72delinsAT	XP_016860146.1:n.2563-73_2563-72delinsAT
XM_017004658.1:c.1810-73_1810-72delinsAT	XP_016860147.1:n.1810-73_1810-72delinsAT
XM_017004659.1:c.361-73_361-72delinsAT	XP_016860148.1:n.361-73_361-72delinsAT
XM_024453037.1:c.1810-73_1810-72delinsAT	XP_024308805.1:n.1810-73_1810-72delinsAT
NM_001040142.2:c.2563-73_2563-72delinsAT MANE Select	NP_001035232.1:n.2563-73_2563-72delinsAT
NM_001040143.2:c.2563-73_2563-72delinsAT	NP_001035233.1:n.2563-73_2563-72delinsAT
NM_001371246.1:c.2563-73_2563-72delinsAT MANE Plus Clinical	NP_001358175.1:n.2563-73_2563-72delinsAT
NM_001371247.1:c.2563-73_2563-72delinsAT	NP_001358176.1:n.2563-73_2563-72delinsAT
NM_021007.3:c.2563-73_2563-72delinsAT	NP_066287.2:n.2563-73_2563-72delinsAT