Canonical Allele Identifier: CA760127919

Gene: SCN2A

Linked Data

• dbSNP Id: rs1347130391
• gnomAD v3: 2-165310812-TATACTC-T
• gnomAD v4: 2-165310812-TATACTC-T
• MyVariant Identifiers: chr2:g.166167323_166167328del (hg19) ; chr2:g.165310813_165310818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165310815_165310820del , CM000664.2:g.165310815_165310820del	GRCh38
NC_000002.11:g.166167325_166167330del , CM000664.1:g.166167325_166167330del	GRCh37
NC_000002.10:g.165875571_165875576del	NCBI36
NG_008143.1:g.76414_76419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.970+220_970+225del MANE Plus Clinical	ENSP00000486885.1:n.970+220_970+225del
ENST00000375437.7:c.970+220_970+225del MANE Select	ENSP00000364586.2:n.970+220_970+225del
ENST00000635945.1:n.1333+220_1333+225del
ENST00000636071.2:c.970+220_970+225del	ENSP00000490107.1:n.970+220_970+225del
ENST00000636135.1:c.841+220_841+225del	ENSP00000489821.1:n.841+220_841+225del
ENST00000636384.2:c.970+220_970+225del	ENSP00000490765.1:n.970+220_970+225del
ENST00000636662.2:c.*1493+220_*1493+225del	ENSP00000489873.1:n.*1493+220_*1493+225del
ENST00000636769.1:c.970+220_970+225del	ENSP00000490800.1:n.970+220_970+225del
ENST00000636985.2:c.574+220_574+225del	ENSP00000490849.1:n.574+220_574+225del
ENST00000637266.2:c.970+220_970+225del	ENSP00000490866.1:n.970+220_970+225del
ENST00000637367.1:c.*903+220_*903+225del	ENSP00000490592.1:n.*903+220_*903+225del
ENST00000638151.1:n.1054+220_1054+225del
ENST00000283256.10:c.970+220_970+225del	ENSP00000283256.6:n.970+220_970+225del
ENST00000375427.4:c.970+220_970+225del	ENSP00000364576.2:n.970+220_970+225del
ENST00000375437.6:c.970+220_970+225del	ENSP00000364586.2:n.970+220_970+225del
ENST00000424833.5:c.970+220_970+225del	ENSP00000406454.2:n.970+220_970+225del
ENST00000480032.4:n.1113+220_1113+225del
ENST00000631182.2:c.970+220_970+225del	ENSP00000486885.1:n.970+220_970+225del
NM_001040142.1:c.970+220_970+225del	NP_001035232.1:n.970+220_970+225del
NM_001040143.1:c.970+220_970+225del	NP_001035233.1:n.970+220_970+225del
NM_021007.2:c.970+220_970+225del	NP_066287.2:n.970+220_970+225del
XM_005246750.2:c.970+220_970+225del	XP_005246807.1:n.970+220_970+225del
XM_005246753.2:c.970+220_970+225del	XP_005246810.1:n.970+220_970+225del
XM_005246754.3:c.940+220_940+225del	XP_005246811.1:n.940+220_940+225del
XM_005246755.3:c.217+220_217+225del	XP_005246812.1:n.217+220_217+225del
XM_011511608.1:c.970+220_970+225del	XP_011509910.1:n.970+220_970+225del
XM_011511609.1:c.970+220_970+225del	XP_011509911.1:n.970+220_970+225del
XM_005246753.3:c.970+220_970+225del	XP_005246810.1:n.970+220_970+225del
XM_017004656.1:c.970+220_970+225del	XP_016860145.1:n.970+220_970+225del
XM_017004657.1:c.970+220_970+225del	XP_016860146.1:n.970+220_970+225del
XM_017004658.1:c.217+220_217+225del	XP_016860147.1:n.217+220_217+225del
XM_024453037.1:c.217+220_217+225del	XP_024308805.1:n.217+220_217+225del
NM_001040142.2:c.970+220_970+225del MANE Select	NP_001035232.1:n.970+220_970+225del
NM_001040143.2:c.970+220_970+225del	NP_001035233.1:n.970+220_970+225del
NM_001371246.1:c.970+220_970+225del MANE Plus Clinical	NP_001358175.1:n.970+220_970+225del
NM_001371247.1:c.970+220_970+225del	NP_001358176.1:n.970+220_970+225del
NM_021007.3:c.970+220_970+225del	NP_066287.2:n.970+220_970+225del