Canonical Allele Identifier: CA658795941

Gene: SCN2A

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165386885_165386886del , CM000664.2:g.165386885_165386886del	GRCh38
NC_000002.11:g.166243395_166243396del , CM000664.1:g.166243395_166243396del	GRCh37
NC_000002.10:g.165951641_165951642del	NCBI36
NG_008143.1:g.152484_152485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.4691_4692del MANE Plus Clinical	ENSP00000486885.1:p.Tyr1564LeufsTer3
ENST00000375437.7:c.4691_4692del MANE Select	ENSP00000364586.2:p.Tyr1564LeufsTer3
ENST00000636071.2:c.4691_4692del	ENSP00000490107.1:p.Tyr1564LeufsTer3
ENST00000636135.1:c.*3010_*3011del	ENSP00000489821.1:n.*3010_*3011del
ENST00000636384.2:c.*2678_*2679del	ENSP00000490765.1:n.*2678_*2679del
ENST00000636662.2:c.*5214_*5215del	ENSP00000489873.1:n.*5214_*5215del
ENST00000636769.1:c.*2633_*2634del	ENSP00000490800.1:n.*2633_*2634del
ENST00000636985.2:c.4295_4296del	ENSP00000490849.1:p.Tyr1432LeufsTer3
ENST00000637266.2:c.4691_4692del	ENSP00000490866.1:p.Tyr1564LeufsTer3
ENST00000283256.10:c.4691_4692del	ENSP00000283256.6:p.Tyr1564LeufsTer3
ENST00000375427.4:c.4691_4692del	ENSP00000364576.2:p.Tyr1564LeufsTer3
ENST00000375437.6:c.4691_4692del	ENSP00000364586.2:p.Tyr1564LeufsTer3
ENST00000480032.4:n.8122_8123del
ENST00000631182.2:c.4691_4692del	ENSP00000486885.1:p.Tyr1564LeufsTer3
NM_001040142.1:c.4691_4692del	NP_001035232.1:p.Tyr1564LeufsTer3
NM_001040143.1:c.4691_4692del	NP_001035233.1:p.Tyr1564LeufsTer3
NM_021007.2:c.4691_4692del	NP_066287.2:p.Tyr1564LeufsTer3
XM_005246750.2:c.4691_4692del	XP_005246807.1:p.Tyr1564LeufsTer3
XM_005246753.2:c.4691_4692del	XP_005246810.1:p.Tyr1564LeufsTer3
XM_005246754.3:c.4661_4662del	XP_005246811.1:p.Tyr1554LeufsTer3
XM_005246755.3:c.3938_3939del	XP_005246812.1:p.Tyr1313LeufsTer3
XM_011511608.1:c.4691_4692del	XP_011509910.1:p.Tyr1564LeufsTer3
XM_011511609.1:c.4691_4692del	XP_011509911.1:p.Tyr1564LeufsTer3
XM_005246753.3:c.4691_4692del	XP_005246810.1:p.Tyr1564LeufsTer3
XM_017004656.1:c.4691_4692del	XP_016860145.1:p.Tyr1564LeufsTer3
XM_017004657.1:c.4691_4692del	XP_016860146.1:p.Tyr1564LeufsTer3
XM_017004658.1:c.3938_3939del	XP_016860147.1:p.Tyr1313LeufsTer3
XM_017004659.1:c.2489_2490del	XP_016860148.1:p.Tyr830LeufsTer3
XM_024453037.1:c.3938_3939del	XP_024308805.1:p.Tyr1313LeufsTer3
NM_001040142.2:c.4691_4692del MANE Select	NP_001035232.1:p.Tyr1564LeufsTer3
NM_001040143.2:c.4691_4692del	NP_001035233.1:p.Tyr1564LeufsTer3
NM_001371246.1:c.4691_4692del MANE Plus Clinical	NP_001358175.1:p.Tyr1564LeufsTer3
NM_001371247.1:c.4691_4692del	NP_001358176.1:p.Tyr1564LeufsTer3
NM_021007.3:c.4691_4692del	NP_066287.2:p.Tyr1564LeufsTer3