Canonical Allele Identifier: CA760099459

Gene: SCN2A

Linked Data

• dbSNP Id: rs1296937590
• gnomAD v3: 2-165367236-GTGT-G
• gnomAD v4: 2-165367236-GTGT-G
• MyVariant Identifiers: chr2:g.166223747_166223749del (hg19) ; chr2:g.165367237_165367239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165367240_165367242del , CM000664.2:g.165367240_165367242del	GRCh38
NC_000002.11:g.166223750_166223752del , CM000664.1:g.166223750_166223752del	GRCh37
NC_000002.10:g.165931996_165931998del	NCBI36
NG_008143.1:g.132839_132841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3544_3546del MANE Plus Clinical	ENSP00000486885.1:p.Cys1182del
ENST00000375437.7:c.3544_3546del MANE Select	ENSP00000364586.2:p.Cys1182del
ENST00000636071.2:c.3544_3546del	ENSP00000490107.1:p.Cys1182del
ENST00000636135.1:c.*1863_*1865del	ENSP00000489821.1:n.*1863_*1865del
ENST00000636384.2:c.*1531_*1533del	ENSP00000490765.1:n.*1531_*1533del
ENST00000636662.2:c.*4067_*4069del	ENSP00000489873.1:n.*4067_*4069del
ENST00000636769.1:c.*1486_*1488del	ENSP00000490800.1:n.*1486_*1488del
ENST00000636985.2:c.3148_3150del	ENSP00000490849.1:p.Cys1050del
ENST00000637266.2:c.3544_3546del	ENSP00000490866.1:p.Cys1182del
ENST00000283256.10:c.3544_3546del	ENSP00000283256.6:p.Cys1182del
ENST00000375427.4:c.3544_3546del	ENSP00000364576.2:p.Cys1182del
ENST00000375437.6:c.3544_3546del	ENSP00000364586.2:p.Cys1182del
ENST00000480032.4:n.3687_3689del
ENST00000631182.2:c.3544_3546del	ENSP00000486885.1:p.Cys1182del
NM_001040142.1:c.3544_3546del	NP_001035232.1:p.Cys1182del
NM_001040143.1:c.3544_3546del	NP_001035233.1:p.Cys1182del
NM_021007.2:c.3544_3546del	NP_066287.2:p.Cys1182del
XM_005246750.2:c.3544_3546del	XP_005246807.1:p.Cys1182del
XM_005246753.2:c.3544_3546del	XP_005246810.1:p.Cys1182del
XM_005246754.3:c.3514_3516del	XP_005246811.1:p.Cys1172del
XM_005246755.3:c.2791_2793del	XP_005246812.1:p.Cys931del
XM_011511608.1:c.3544_3546del	XP_011509910.1:p.Cys1182del
XM_011511609.1:c.3544_3546del	XP_011509911.1:p.Cys1182del
XM_005246753.3:c.3544_3546del	XP_005246810.1:p.Cys1182del
XM_017004656.1:c.3544_3546del	XP_016860145.1:p.Cys1182del
XM_017004657.1:c.3544_3546del	XP_016860146.1:p.Cys1182del
XM_017004658.1:c.2791_2793del	XP_016860147.1:p.Cys931del
XM_017004659.1:c.1342_1344del	XP_016860148.1:p.Cys448del
XM_024453037.1:c.2791_2793del	XP_024308805.1:p.Cys931del
NM_001040142.2:c.3544_3546del MANE Select	NP_001035232.1:p.Cys1182del
NM_001040143.2:c.3544_3546del	NP_001035233.1:p.Cys1182del
NM_001371246.1:c.3544_3546del MANE Plus Clinical	NP_001358175.1:p.Cys1182del
NM_001371247.1:c.3544_3546del	NP_001358176.1:p.Cys1182del
NM_021007.3:c.3544_3546del	NP_066287.2:p.Cys1182del