Canonical Allele Identifier: CA1304530023

Gene: SCN2A

Linked Data

• dbSNP Id: rs1697322019
• gnomAD v4: 2-165309496-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165309499_165309500del , CM000664.2:g.165309499_165309500del	GRCh38
NC_000002.11:g.166166009_166166010del , CM000664.1:g.166166009_166166010del	GRCh37
NC_000002.10:g.165874255_165874256del	NCBI36
NG_008143.1:g.75098_75099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.697+243_697+244del MANE Plus Clinical	ENSP00000486885.1:n.697+243_697+244del
ENST00000375437.7:c.697+56_697+57del MANE Select	ENSP00000364586.2:n.697+56_697+57del
ENST00000635945.1:n.1060+56_1060+57del
ENST00000636071.2:c.697+243_697+244del	ENSP00000490107.1:n.697+243_697+244del
ENST00000636135.1:c.568+56_568+57del	ENSP00000489821.1:n.568+56_568+57del
ENST00000636384.2:c.697+56_697+57del	ENSP00000490765.1:n.697+56_697+57del
ENST00000636662.2:c.*1220+56_*1220+57del	ENSP00000489873.1:n.*1220+56_*1220+57del
ENST00000636769.1:c.697+56_697+57del	ENSP00000490800.1:n.697+56_697+57del
ENST00000636985.2:c.301+56_301+57del	ENSP00000490849.1:n.301+56_301+57del
ENST00000637266.2:c.697+56_697+57del	ENSP00000490866.1:n.697+56_697+57del
ENST00000637367.1:c.*630+56_*630+57del	ENSP00000490592.1:n.*630+56_*630+57del
ENST00000638151.1:n.781+56_781+57del
ENST00000283256.10:c.697+56_697+57del	ENSP00000283256.6:n.697+56_697+57del
ENST00000375427.4:c.697+243_697+244del	ENSP00000364576.2:n.697+243_697+244del
ENST00000375437.6:c.697+56_697+57del	ENSP00000364586.2:n.697+56_697+57del
ENST00000424833.5:c.697+56_697+57del	ENSP00000406454.2:n.697+56_697+57del
ENST00000480032.4:n.840+56_840+57del
ENST00000486878.2:c.238+56_238+57del	ENSP00000487466.1:n.238+56_238+57del
ENST00000631182.2:c.697+243_697+244del	ENSP00000486885.1:n.697+243_697+244del
NM_001040142.1:c.697+56_697+57del	NP_001035232.1:n.697+56_697+57del
NM_001040143.1:c.697+243_697+244del	NP_001035233.1:n.697+243_697+244del
NM_021007.2:c.697+56_697+57del	NP_066287.2:n.697+56_697+57del
XM_005246750.2:c.697+56_697+57del	XP_005246807.1:n.697+56_697+57del
XM_005246753.2:c.697+243_697+244del	XP_005246810.1:n.697+243_697+244del
XM_005246754.3:c.667+56_667+57del	XP_005246811.1:n.667+56_667+57del
XM_005246755.3:c.-57+705_-57+706del	XP_005246812.1:n.-57+705_-57+706del
XM_011511608.1:c.697+56_697+57del	XP_011509910.1:n.697+56_697+57del
XM_011511609.1:c.697+56_697+57del	XP_011509911.1:n.697+56_697+57del
XM_005246753.3:c.697+243_697+244del	XP_005246810.1:n.697+243_697+244del
XM_017004656.1:c.697+56_697+57del	XP_016860145.1:n.697+56_697+57del
XM_017004657.1:c.697+243_697+244del	XP_016860146.1:n.697+243_697+244del
XM_017004658.1:c.-57+56_-57+57del	XP_016860147.1:n.-57+56_-57+57del
XM_024453037.1:c.-57+705_-57+706del	XP_024308805.1:n.-57+705_-57+706del
NM_001040142.2:c.697+56_697+57del MANE Select	NP_001035232.1:n.697+56_697+57del
NM_001040143.2:c.697+243_697+244del	NP_001035233.1:n.697+243_697+244del
NM_001371246.1:c.697+243_697+244del MANE Plus Clinical	NP_001358175.1:n.697+243_697+244del
NM_001371247.1:c.697+56_697+57del	NP_001358176.1:n.697+56_697+57del
NM_021007.3:c.697+56_697+57del	NP_066287.2:n.697+56_697+57del