Canonical Allele Identifier: CA1304563654

Gene: SCN2A

Linked Data

• dbSNP Id: rs78399411
• gnomAD v4: 2-165386602-A-ATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165386611_165386613dup , CM000664.2:g.165386611_165386613dup	GRCh38
NC_000002.11:g.166243121_166243123dup , CM000664.1:g.166243121_166243123dup	GRCh37
NC_000002.10:g.165951367_165951369dup	NCBI36
NG_008143.1:g.152210_152212dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.4552-135_4552-133dup MANE Plus Clinical	ENSP00000486885.1:n.4552-135_4552-133dup
ENST00000375437.7:c.4552-135_4552-133dup MANE Select	ENSP00000364586.2:n.4552-135_4552-133dup
ENST00000636071.2:c.4552-135_4552-133dup	ENSP00000490107.1:n.4552-135_4552-133dup
ENST00000636135.1:c.*2871-135_*2871-133dup	ENSP00000489821.1:n.*2871-135_*2871-133dup
ENST00000636384.2:c.*2539-135_*2539-133dup	ENSP00000490765.1:n.*2539-135_*2539-133dup
ENST00000636662.2:c.*5075-135_*5075-133dup	ENSP00000489873.1:n.*5075-135_*5075-133dup
ENST00000636769.1:c.*2494-135_*2494-133dup	ENSP00000490800.1:n.*2494-135_*2494-133dup
ENST00000636985.2:c.4156-135_4156-133dup	ENSP00000490849.1:n.4156-135_4156-133dup
ENST00000637266.2:c.4552-135_4552-133dup	ENSP00000490866.1:n.4552-135_4552-133dup
ENST00000283256.10:c.4552-135_4552-133dup	ENSP00000283256.6:n.4552-135_4552-133dup
ENST00000375427.4:c.4552-135_4552-133dup	ENSP00000364576.2:n.4552-135_4552-133dup
ENST00000375437.6:c.4552-135_4552-133dup	ENSP00000364586.2:n.4552-135_4552-133dup
ENST00000480032.4:n.7983-135_7983-133dup
ENST00000631182.2:c.4552-135_4552-133dup	ENSP00000486885.1:n.4552-135_4552-133dup
NM_001040142.1:c.4552-135_4552-133dup	NP_001035232.1:n.4552-135_4552-133dup
NM_001040143.1:c.4552-135_4552-133dup	NP_001035233.1:n.4552-135_4552-133dup
NM_021007.2:c.4552-135_4552-133dup	NP_066287.2:n.4552-135_4552-133dup
XM_005246750.2:c.4552-135_4552-133dup	XP_005246807.1:n.4552-135_4552-133dup
XM_005246753.2:c.4552-135_4552-133dup	XP_005246810.1:n.4552-135_4552-133dup
XM_005246754.3:c.4522-135_4522-133dup	XP_005246811.1:n.4522-135_4522-133dup
XM_005246755.3:c.3799-135_3799-133dup	XP_005246812.1:n.3799-135_3799-133dup
XM_011511608.1:c.4552-135_4552-133dup	XP_011509910.1:n.4552-135_4552-133dup
XM_011511609.1:c.4552-135_4552-133dup	XP_011509911.1:n.4552-135_4552-133dup
XM_005246753.3:c.4552-135_4552-133dup	XP_005246810.1:n.4552-135_4552-133dup
XM_017004656.1:c.4552-135_4552-133dup	XP_016860145.1:n.4552-135_4552-133dup
XM_017004657.1:c.4552-135_4552-133dup	XP_016860146.1:n.4552-135_4552-133dup
XM_017004658.1:c.3799-135_3799-133dup	XP_016860147.1:n.3799-135_3799-133dup
XM_017004659.1:c.2350-135_2350-133dup	XP_016860148.1:n.2350-135_2350-133dup
XM_024453037.1:c.3799-135_3799-133dup	XP_024308805.1:n.3799-135_3799-133dup
NM_001040142.2:c.4552-135_4552-133dup MANE Select	NP_001035232.1:n.4552-135_4552-133dup
NM_001040143.2:c.4552-135_4552-133dup	NP_001035233.1:n.4552-135_4552-133dup
NM_001371246.1:c.4552-135_4552-133dup MANE Plus Clinical	NP_001358175.1:n.4552-135_4552-133dup
NM_001371247.1:c.4552-135_4552-133dup	NP_001358176.1:n.4552-135_4552-133dup
NM_021007.3:c.4552-135_4552-133dup	NP_066287.2:n.4552-135_4552-133dup