Canonical Allele Identifier: CA1038779762

Gene: SCN2A

Linked Data

• dbSNP Id: rs1699457229
• gnomAD v3: 2-165344335-GAC-G
• gnomAD v4: 2-165344335-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165344337_165344338del , CM000664.2:g.165344337_165344338del	GRCh38
NC_000002.11:g.166200847_166200848del , CM000664.1:g.166200847_166200848del	GRCh37
NC_000002.10:g.165909093_165909094del	NCBI36
NG_008143.1:g.109936_109937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.2563-218_2563-217del MANE Plus Clinical	ENSP00000486885.1:n.2563-218_2563-217del
ENST00000375437.7:c.2563-218_2563-217del MANE Select	ENSP00000364586.2:n.2563-218_2563-217del
ENST00000636071.2:c.2563-218_2563-217del	ENSP00000490107.1:n.2563-218_2563-217del
ENST00000636135.1:c.*882-218_*882-217del	ENSP00000489821.1:n.*882-218_*882-217del
ENST00000636384.2:c.*550-218_*550-217del	ENSP00000490765.1:n.*550-218_*550-217del
ENST00000636662.2:c.*3086-218_*3086-217del	ENSP00000489873.1:n.*3086-218_*3086-217del
ENST00000636769.1:c.*505-218_*505-217del	ENSP00000490800.1:n.*505-218_*505-217del
ENST00000636985.2:c.2167-218_2167-217del	ENSP00000490849.1:n.2167-218_2167-217del
ENST00000637266.2:c.2563-218_2563-217del	ENSP00000490866.1:n.2563-218_2563-217del
ENST00000674133.1:c.414-218_414-217del
ENST00000283256.10:c.2563-218_2563-217del	ENSP00000283256.6:n.2563-218_2563-217del
ENST00000375427.4:c.2563-218_2563-217del	ENSP00000364576.2:n.2563-218_2563-217del
ENST00000375437.6:c.2563-218_2563-217del	ENSP00000364586.2:n.2563-218_2563-217del
ENST00000480032.4:n.2706-218_2706-217del
ENST00000631182.2:c.2563-218_2563-217del	ENSP00000486885.1:n.2563-218_2563-217del
NM_001040142.1:c.2563-218_2563-217del	NP_001035232.1:n.2563-218_2563-217del
NM_001040143.1:c.2563-218_2563-217del	NP_001035233.1:n.2563-218_2563-217del
NM_021007.2:c.2563-218_2563-217del	NP_066287.2:n.2563-218_2563-217del
XM_005246750.2:c.2563-218_2563-217del	XP_005246807.1:n.2563-218_2563-217del
XM_005246753.2:c.2563-218_2563-217del	XP_005246810.1:n.2563-218_2563-217del
XM_005246754.3:c.2533-218_2533-217del	XP_005246811.1:n.2533-218_2533-217del
XM_005246755.3:c.1810-218_1810-217del	XP_005246812.1:n.1810-218_1810-217del
XM_011511608.1:c.2563-218_2563-217del	XP_011509910.1:n.2563-218_2563-217del
XM_011511609.1:c.2563-218_2563-217del	XP_011509911.1:n.2563-218_2563-217del
XM_005246753.3:c.2563-218_2563-217del	XP_005246810.1:n.2563-218_2563-217del
XM_017004656.1:c.2563-218_2563-217del	XP_016860145.1:n.2563-218_2563-217del
XM_017004657.1:c.2563-218_2563-217del	XP_016860146.1:n.2563-218_2563-217del
XM_017004658.1:c.1810-218_1810-217del	XP_016860147.1:n.1810-218_1810-217del
XM_017004659.1:c.361-218_361-217del	XP_016860148.1:n.361-218_361-217del
XM_024453037.1:c.1810-218_1810-217del	XP_024308805.1:n.1810-218_1810-217del
NM_001040142.2:c.2563-218_2563-217del MANE Select	NP_001035232.1:n.2563-218_2563-217del
NM_001040143.2:c.2563-218_2563-217del	NP_001035233.1:n.2563-218_2563-217del
NM_001371246.1:c.2563-218_2563-217del MANE Plus Clinical	NP_001358175.1:n.2563-218_2563-217del
NM_001371247.1:c.2563-218_2563-217del	NP_001358176.1:n.2563-218_2563-217del
NM_021007.3:c.2563-218_2563-217del	NP_066287.2:n.2563-218_2563-217del