Canonical Allele Identifier: CA1304545379

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165344441_165344444delinsTATA , CM000664.2:g.165344441_165344444delinsTATA	GRCh38
NC_000002.11:g.166200951_166200954delinsTATA , CM000664.1:g.166200951_166200954delinsTATA	GRCh37
NC_000002.10:g.165909197_165909200delinsTATA	NCBI36
NG_008143.1:g.110040_110043delinsTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.2563-114_2563-111delinsTATA MANE Plus Clinical	ENSP00000486885.1:n.2563-114_2563-111delinsTATA
ENST00000375437.7:c.2563-114_2563-111delinsTATA MANE Select	ENSP00000364586.2:n.2563-114_2563-111delinsTATA
ENST00000636071.2:c.2563-114_2563-111delinsTATA	ENSP00000490107.1:n.2563-114_2563-111delinsTATA
ENST00000636135.1:c.*882-114_*882-111delinsTATA	ENSP00000489821.1:n.*882-114_*882-111delinsTATA
ENST00000636384.2:c.*550-114_*550-111delinsTATA	ENSP00000490765.1:n.*550-114_*550-111delinsTATA
ENST00000636662.2:c.*3086-114_*3086-111delinsTATA	ENSP00000489873.1:n.*3086-114_*3086-111delinsTATA
ENST00000636769.1:c.*505-114_*505-111delinsTATA	ENSP00000490800.1:n.*505-114_*505-111delinsTATA
ENST00000636985.2:c.2167-114_2167-111delinsTATA	ENSP00000490849.1:n.2167-114_2167-111delinsTATA
ENST00000637266.2:c.2563-114_2563-111delinsTATA	ENSP00000490866.1:n.2563-114_2563-111delinsTATA
ENST00000674133.1:c.414-114_414-111delinsTATA
ENST00000283256.10:c.2563-114_2563-111delinsTATA	ENSP00000283256.6:n.2563-114_2563-111delinsTATA
ENST00000375427.4:c.2563-114_2563-111delinsTATA	ENSP00000364576.2:n.2563-114_2563-111delinsTATA
ENST00000375437.6:c.2563-114_2563-111delinsTATA	ENSP00000364586.2:n.2563-114_2563-111delinsTATA
ENST00000480032.4:n.2706-114_2706-111delinsTATA
ENST00000631182.2:c.2563-114_2563-111delinsTATA	ENSP00000486885.1:n.2563-114_2563-111delinsTATA
NM_001040142.1:c.2563-114_2563-111delinsTATA	NP_001035232.1:n.2563-114_2563-111delinsTATA
NM_001040143.1:c.2563-114_2563-111delinsTATA	NP_001035233.1:n.2563-114_2563-111delinsTATA
NM_021007.2:c.2563-114_2563-111delinsTATA	NP_066287.2:n.2563-114_2563-111delinsTATA
XM_005246750.2:c.2563-114_2563-111delinsTATA	XP_005246807.1:n.2563-114_2563-111delinsTATA
XM_005246753.2:c.2563-114_2563-111delinsTATA	XP_005246810.1:n.2563-114_2563-111delinsTATA
XM_005246754.3:c.2533-114_2533-111delinsTATA	XP_005246811.1:n.2533-114_2533-111delinsTATA
XM_005246755.3:c.1810-114_1810-111delinsTATA	XP_005246812.1:n.1810-114_1810-111delinsTATA
XM_011511608.1:c.2563-114_2563-111delinsTATA	XP_011509910.1:n.2563-114_2563-111delinsTATA
XM_011511609.1:c.2563-114_2563-111delinsTATA	XP_011509911.1:n.2563-114_2563-111delinsTATA
XM_005246753.3:c.2563-114_2563-111delinsTATA	XP_005246810.1:n.2563-114_2563-111delinsTATA
XM_017004656.1:c.2563-114_2563-111delinsTATA	XP_016860145.1:n.2563-114_2563-111delinsTATA
XM_017004657.1:c.2563-114_2563-111delinsTATA	XP_016860146.1:n.2563-114_2563-111delinsTATA
XM_017004658.1:c.1810-114_1810-111delinsTATA	XP_016860147.1:n.1810-114_1810-111delinsTATA
XM_017004659.1:c.361-114_361-111delinsTATA	XP_016860148.1:n.361-114_361-111delinsTATA
XM_024453037.1:c.1810-114_1810-111delinsTATA	XP_024308805.1:n.1810-114_1810-111delinsTATA
NM_001040142.2:c.2563-114_2563-111delinsTATA MANE Select	NP_001035232.1:n.2563-114_2563-111delinsTATA
NM_001040143.2:c.2563-114_2563-111delinsTATA	NP_001035233.1:n.2563-114_2563-111delinsTATA
NM_001371246.1:c.2563-114_2563-111delinsTATA MANE Plus Clinical	NP_001358175.1:n.2563-114_2563-111delinsTATA
NM_001371247.1:c.2563-114_2563-111delinsTATA	NP_001358176.1:n.2563-114_2563-111delinsTATA
NM_021007.3:c.2563-114_2563-111delinsTATA	NP_066287.2:n.2563-114_2563-111delinsTATA