Canonical Allele Identifier: CA429886445

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 1558699
• ClinVar RCV Id: RCV002200112
• dbSNP Id: rs1225687118
• gnomAD v4: 2-165373245-T-C
• MyVariant Identifiers: chr2:g.166229755T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165373245T>C , CM000664.2:g.165373245T>C	GRCh38
NC_000002.11:g.166229755T>C , CM000664.1:g.166229755T>C	GRCh37
NC_000002.10:g.165938001T>C	NCBI36
NG_008143.1:g.138844T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3870T>C MANE Plus Clinical	ENSP00000486885.1:p.Thr1290=
ENST00000375437.7:c.3870T>C MANE Select	ENSP00000364586.2:p.Thr1290=
ENST00000636071.2:c.3870T>C	ENSP00000490107.1:p.Thr1290=
ENST00000636135.1:c.*2189T>C	ENSP00000489821.1:n.*2189T>C
ENST00000636384.2:c.*1857T>C	ENSP00000490765.1:n.*1857T>C
ENST00000636662.2:c.*4393T>C	ENSP00000489873.1:n.*4393T>C
ENST00000636769.1:c.*1812T>C	ENSP00000490800.1:n.*1812T>C
ENST00000636985.2:c.3474T>C	ENSP00000490849.1:p.Thr1158=
ENST00000637266.2:c.3870T>C	ENSP00000490866.1:p.Thr1290=
ENST00000283256.10:c.3870T>C	ENSP00000283256.6:p.Thr1290=
ENST00000375427.4:c.3870T>C	ENSP00000364576.2:p.Thr1290=
ENST00000375437.6:c.3870T>C	ENSP00000364586.2:p.Thr1290=
ENST00000480032.4:n.6938T>C
ENST00000631182.2:c.3870T>C	ENSP00000486885.1:p.Thr1290=
NM_001040142.1:c.3870T>C	NP_001035232.1:p.Thr1290=
NM_001040143.1:c.3870T>C	NP_001035233.1:p.Thr1290=
NM_021007.2:c.3870T>C	NP_066287.2:p.Thr1290=
XM_005246750.2:c.3870T>C	XP_005246807.1:p.Thr1290=
XM_005246753.2:c.3870T>C	XP_005246810.1:p.Thr1290=
XM_005246754.3:c.3840T>C	XP_005246811.1:p.Thr1280=
XM_005246755.3:c.3117T>C	XP_005246812.1:p.Thr1039=
XM_011511608.1:c.3870T>C	XP_011509910.1:p.Thr1290=
XM_011511609.1:c.3870T>C	XP_011509911.1:p.Thr1290=
XM_005246753.3:c.3870T>C	XP_005246810.1:p.Thr1290=
XM_017004656.1:c.3870T>C	XP_016860145.1:p.Thr1290=
XM_017004657.1:c.3870T>C	XP_016860146.1:p.Thr1290=
XM_017004658.1:c.3117T>C	XP_016860147.1:p.Thr1039=
XM_017004659.1:c.1668T>C	XP_016860148.1:p.Thr556=
XM_024453037.1:c.3117T>C	XP_024308805.1:p.Thr1039=
NM_001040142.2:c.3870T>C MANE Select	NP_001035232.1:p.Thr1290=
NM_001040143.2:c.3870T>C	NP_001035233.1:p.Thr1290=
NM_001371246.1:c.3870T>C MANE Plus Clinical	NP_001358175.1:p.Thr1290=
NM_001371247.1:c.3870T>C	NP_001358176.1:p.Thr1290=
NM_021007.3:c.3870T>C	NP_066287.2:p.Thr1290=