Canonical Allele Identifier: CA537115828

Gene: SCN2A

Linked Data

• dbSNP Id: rs1214211394
• gnomAD v2: 2-166168399-CTT-C
• MyVariant Identifiers: chr2:g.166168400_166168401del (hg19) ; chr2:g.165311890_165311891del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165311891_165311892del , CM000664.2:g.165311891_165311892del	GRCh38
NC_000002.11:g.166168401_166168402del , CM000664.1:g.166168401_166168402del	GRCh37
NC_000002.10:g.165876647_165876648del	NCBI36
NG_008143.1:g.77490_77491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.971-134_971-133del MANE Plus Clinical	ENSP00000486885.1:n.971-134_971-133del
ENST00000375437.7:c.971-134_971-133del MANE Select	ENSP00000364586.2:n.971-134_971-133del
ENST00000635945.1:n.1334-134_1334-133del
ENST00000636071.2:c.971-134_971-133del	ENSP00000490107.1:n.971-134_971-133del
ENST00000636135.1:c.842-134_842-133del	ENSP00000489821.1:n.842-134_842-133del
ENST00000636384.2:c.971-134_971-133del	ENSP00000490765.1:n.971-134_971-133del
ENST00000636662.2:c.*1494-134_*1494-133del	ENSP00000489873.1:n.*1494-134_*1494-133del
ENST00000636769.1:c.971-134_971-133del	ENSP00000490800.1:n.971-134_971-133del
ENST00000636985.2:c.575-134_575-133del	ENSP00000490849.1:n.575-134_575-133del
ENST00000637266.2:c.971-134_971-133del	ENSP00000490866.1:n.971-134_971-133del
ENST00000637367.1:c.*904-134_*904-133del	ENSP00000490592.1:n.*904-134_*904-133del
ENST00000638151.1:n.1055-134_1055-133del
ENST00000283256.10:c.971-134_971-133del	ENSP00000283256.6:n.971-134_971-133del
ENST00000375427.4:c.971-134_971-133del	ENSP00000364576.2:n.971-134_971-133del
ENST00000375437.6:c.971-134_971-133del	ENSP00000364586.2:n.971-134_971-133del
ENST00000424833.5:c.971-134_971-133del	ENSP00000406454.2:n.971-134_971-133del
ENST00000480032.4:n.1114-134_1114-133del
ENST00000631182.2:c.971-134_971-133del	ENSP00000486885.1:n.971-134_971-133del
NM_001040142.1:c.971-134_971-133del	NP_001035232.1:n.971-134_971-133del
NM_001040143.1:c.971-134_971-133del	NP_001035233.1:n.971-134_971-133del
NM_021007.2:c.971-134_971-133del	NP_066287.2:n.971-134_971-133del
XM_005246750.2:c.971-134_971-133del	XP_005246807.1:n.971-134_971-133del
XM_005246753.2:c.971-134_971-133del	XP_005246810.1:n.971-134_971-133del
XM_005246754.3:c.941-134_941-133del	XP_005246811.1:n.941-134_941-133del
XM_005246755.3:c.218-134_218-133del	XP_005246812.1:n.218-134_218-133del
XM_011511608.1:c.971-134_971-133del	XP_011509910.1:n.971-134_971-133del
XM_011511609.1:c.971-134_971-133del	XP_011509911.1:n.971-134_971-133del
XM_005246753.3:c.971-134_971-133del	XP_005246810.1:n.971-134_971-133del
XM_017004656.1:c.971-134_971-133del	XP_016860145.1:n.971-134_971-133del
XM_017004657.1:c.971-134_971-133del	XP_016860146.1:n.971-134_971-133del
XM_017004658.1:c.218-134_218-133del	XP_016860147.1:n.218-134_218-133del
XM_024453037.1:c.218-134_218-133del	XP_024308805.1:n.218-134_218-133del
NM_001040142.2:c.971-134_971-133del MANE Select	NP_001035232.1:n.971-134_971-133del
NM_001040143.2:c.971-134_971-133del	NP_001035233.1:n.971-134_971-133del
NM_001371246.1:c.971-134_971-133del MANE Plus Clinical	NP_001358175.1:n.971-134_971-133del
NM_001371247.1:c.971-134_971-133del	NP_001358176.1:n.971-134_971-133del
NM_021007.3:c.971-134_971-133del	NP_066287.2:n.971-134_971-133del