Canonical Allele Identifier: CA2661736785

Gene: SCN2A

Linked Data

• gnomAD v4: 2-165310645-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165310645A>C , CM000664.2:g.165310645A>C	GRCh38
NC_000002.11:g.166167155A>C , CM000664.1:g.166167155A>C	GRCh37
NC_000002.10:g.165875401A>C	NCBI36
NG_008143.1:g.76244A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.970+50A>C MANE Plus Clinical	ENSP00000486885.1:n.970+50A>C
ENST00000375437.7:c.970+50A>C MANE Select	ENSP00000364586.2:n.970+50A>C
ENST00000635945.1:n.1333+50A>C
ENST00000636071.2:c.970+50A>C	ENSP00000490107.1:n.970+50A>C
ENST00000636135.1:c.841+50A>C	ENSP00000489821.1:n.841+50A>C
ENST00000636384.2:c.970+50A>C	ENSP00000490765.1:n.970+50A>C
ENST00000636662.2:c.*1493+50A>C	ENSP00000489873.1:n.*1493+50A>C
ENST00000636769.1:c.970+50A>C	ENSP00000490800.1:n.970+50A>C
ENST00000636985.2:c.574+50A>C	ENSP00000490849.1:n.574+50A>C
ENST00000637266.2:c.970+50A>C	ENSP00000490866.1:n.970+50A>C
ENST00000637367.1:c.*903+50A>C	ENSP00000490592.1:n.*903+50A>C
ENST00000638151.1:n.1054+50A>C
ENST00000283256.10:c.970+50A>C	ENSP00000283256.6:n.970+50A>C
ENST00000375427.4:c.970+50A>C	ENSP00000364576.2:n.970+50A>C
ENST00000375437.6:c.970+50A>C	ENSP00000364586.2:n.970+50A>C
ENST00000424833.5:c.970+50A>C	ENSP00000406454.2:n.970+50A>C
ENST00000480032.4:n.1113+50A>C
ENST00000486878.2:c.561A>C	ENSP00000487466.1:n.561A>C
ENST00000631182.2:c.970+50A>C	ENSP00000486885.1:n.970+50A>C
NM_001040142.1:c.970+50A>C	NP_001035232.1:n.970+50A>C
NM_001040143.1:c.970+50A>C	NP_001035233.1:n.970+50A>C
NM_021007.2:c.970+50A>C	NP_066287.2:n.970+50A>C
XM_005246750.2:c.970+50A>C	XP_005246807.1:n.970+50A>C
XM_005246753.2:c.970+50A>C	XP_005246810.1:n.970+50A>C
XM_005246754.3:c.940+50A>C	XP_005246811.1:n.940+50A>C
XM_005246755.3:c.217+50A>C	XP_005246812.1:n.217+50A>C
XM_011511608.1:c.970+50A>C	XP_011509910.1:n.970+50A>C
XM_011511609.1:c.970+50A>C	XP_011509911.1:n.970+50A>C
XM_005246753.3:c.970+50A>C	XP_005246810.1:n.970+50A>C
XM_017004656.1:c.970+50A>C	XP_016860145.1:n.970+50A>C
XM_017004657.1:c.970+50A>C	XP_016860146.1:n.970+50A>C
XM_017004658.1:c.217+50A>C	XP_016860147.1:n.217+50A>C
XM_024453037.1:c.217+50A>C	XP_024308805.1:n.217+50A>C
NM_001040142.2:c.970+50A>C MANE Select	NP_001035232.1:n.970+50A>C
NM_001040143.2:c.970+50A>C	NP_001035233.1:n.970+50A>C
NM_001371246.1:c.970+50A>C MANE Plus Clinical	NP_001358175.1:n.970+50A>C
NM_001371247.1:c.970+50A>C	NP_001358176.1:n.970+50A>C
NM_021007.3:c.970+50A>C	NP_066287.2:n.970+50A>C