Canonical Allele Identifier: CA2661736777

Gene: SCN2A

Linked Data

• gnomAD v4: 2-165310624-TGTTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165310628_165310632del , CM000664.2:g.165310628_165310632del	GRCh38
NC_000002.11:g.166167138_166167142del , CM000664.1:g.166167138_166167142del	GRCh37
NC_000002.10:g.165875384_165875388del	NCBI36
NG_008143.1:g.76227_76231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.970+33_970+37del MANE Plus Clinical	ENSP00000486885.1:n.970+33_970+37del
ENST00000375437.7:c.970+33_970+37del MANE Select	ENSP00000364586.2:n.970+33_970+37del
ENST00000635945.1:n.1333+33_1333+37del
ENST00000636071.2:c.970+33_970+37del	ENSP00000490107.1:n.970+33_970+37del
ENST00000636135.1:c.841+33_841+37del	ENSP00000489821.1:n.841+33_841+37del
ENST00000636384.2:c.970+33_970+37del	ENSP00000490765.1:n.970+33_970+37del
ENST00000636662.2:c.*1493+33_*1493+37del	ENSP00000489873.1:n.*1493+33_*1493+37del
ENST00000636769.1:c.970+33_970+37del	ENSP00000490800.1:n.970+33_970+37del
ENST00000636985.2:c.574+33_574+37del	ENSP00000490849.1:n.574+33_574+37del
ENST00000637266.2:c.970+33_970+37del	ENSP00000490866.1:n.970+33_970+37del
ENST00000637367.1:c.*903+33_*903+37del	ENSP00000490592.1:n.*903+33_*903+37del
ENST00000638151.1:n.1054+33_1054+37del
ENST00000283256.10:c.970+33_970+37del	ENSP00000283256.6:n.970+33_970+37del
ENST00000375427.4:c.970+33_970+37del	ENSP00000364576.2:n.970+33_970+37del
ENST00000375437.6:c.970+33_970+37del	ENSP00000364586.2:n.970+33_970+37del
ENST00000424833.5:c.970+33_970+37del	ENSP00000406454.2:n.970+33_970+37del
ENST00000480032.4:n.1113+33_1113+37del
ENST00000486878.2:c.544_548del	ENSP00000487466.1:n.544_548del
ENST00000631182.2:c.970+33_970+37del	ENSP00000486885.1:n.970+33_970+37del
NM_001040142.1:c.970+33_970+37del	NP_001035232.1:n.970+33_970+37del
NM_001040143.1:c.970+33_970+37del	NP_001035233.1:n.970+33_970+37del
NM_021007.2:c.970+33_970+37del	NP_066287.2:n.970+33_970+37del
XM_005246750.2:c.970+33_970+37del	XP_005246807.1:n.970+33_970+37del
XM_005246753.2:c.970+33_970+37del	XP_005246810.1:n.970+33_970+37del
XM_005246754.3:c.940+33_940+37del	XP_005246811.1:n.940+33_940+37del
XM_005246755.3:c.217+33_217+37del	XP_005246812.1:n.217+33_217+37del
XM_011511608.1:c.970+33_970+37del	XP_011509910.1:n.970+33_970+37del
XM_011511609.1:c.970+33_970+37del	XP_011509911.1:n.970+33_970+37del
XM_005246753.3:c.970+33_970+37del	XP_005246810.1:n.970+33_970+37del
XM_017004656.1:c.970+33_970+37del	XP_016860145.1:n.970+33_970+37del
XM_017004657.1:c.970+33_970+37del	XP_016860146.1:n.970+33_970+37del
XM_017004658.1:c.217+33_217+37del	XP_016860147.1:n.217+33_217+37del
XM_024453037.1:c.217+33_217+37del	XP_024308805.1:n.217+33_217+37del
NM_001040142.2:c.970+33_970+37del MANE Select	NP_001035232.1:n.970+33_970+37del
NM_001040143.2:c.970+33_970+37del	NP_001035233.1:n.970+33_970+37del
NM_001371246.1:c.970+33_970+37del MANE Plus Clinical	NP_001358175.1:n.970+33_970+37del
NM_001371247.1:c.970+33_970+37del	NP_001358176.1:n.970+33_970+37del
NM_021007.3:c.970+33_970+37del	NP_066287.2:n.970+33_970+37del