Canonical Allele Identifier: CA2518899956

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165309350_165309352del , CM000664.2:g.165309350_165309352del	GRCh38
NC_000002.11:g.166165860_166165862del , CM000664.1:g.166165860_166165862del	GRCh37
NC_000002.10:g.165874106_165874108del	NCBI36
NG_008143.1:g.74949_74951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.697+94_697+96del MANE Plus Clinical	ENSP00000486885.1:n.697+94_697+96del
ENST00000375437.7:c.606-2_606del
ENST00000635945.1:n.969-2_969del
ENST00000636071.2:c.697+94_697+96del	ENSP00000490107.1:n.697+94_697+96del
ENST00000636135.1:c.477-2_477del
ENST00000636384.2:c.606-2_606del
ENST00000636662.2:c.*1129-2_*1129del
ENST00000636769.1:c.606-2_606del
ENST00000636985.2:c.210-2_210del
ENST00000637266.2:c.606-2_606del
ENST00000637367.1:c.*539-2_*539del
ENST00000638151.1:n.690-2_690del
ENST00000283256.10:c.606-2_606del
ENST00000375427.4:c.697+94_697+96del	ENSP00000364576.2:n.697+94_697+96del
ENST00000375437.6:c.606-2_606del
ENST00000424833.5:c.606-2_606del
ENST00000480032.4:n.749-2_749del
ENST00000486878.2:c.147-2_147del
ENST00000631182.2:c.697+94_697+96del	ENSP00000486885.1:n.697+94_697+96del
NM_001040142.1:c.606-2_606del
NM_001040143.1:c.697+94_697+96del	NP_001035233.1:n.697+94_697+96del
NM_021007.2:c.606-2_606del
XM_005246750.2:c.606-2_606del
XM_005246753.2:c.697+94_697+96del	XP_005246810.1:n.697+94_697+96del
XM_005246754.3:c.576-2_576del
XM_005246755.3:c.-57+556_-57+558del	XP_005246812.1:n.-57+556_-57+558del
XM_011511608.1:c.606-2_606del
XM_011511609.1:c.606-2_606del
XM_005246753.3:c.697+94_697+96del	XP_005246810.1:n.697+94_697+96del
XM_017004656.1:c.606-2_606del
XM_017004657.1:c.697+94_697+96del	XP_016860146.1:n.697+94_697+96del
XM_017004658.1:c.-150_-148del	XP_016860147.1:n.-150_-148del
XM_024453037.1:c.-57+556_-57+558del	XP_024308805.1:n.-57+556_-57+558del
NM_001040142.2:c.606-2_606del
NM_001040143.2:c.697+94_697+96del	NP_001035233.1:n.697+94_697+96del
NM_001371246.1:c.697+94_697+96del MANE Plus Clinical	NP_001358175.1:n.697+94_697+96del
NM_001371247.1:c.606-2_606del
NM_021007.3:c.606-2_606del