Canonical Allele Identifier: CA349019435

Gene: SCN2A

Linked Data

• dbSNP Id: rs1553583560
• MyVariant Identifiers: chr2:g.166210730T>A (hg19) ; chr2:g.165354220T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165354220T>A , CM000664.2:g.165354220T>A	GRCh38
NC_000002.11:g.166210730T>A , CM000664.1:g.166210730T>A	GRCh37
NC_000002.10:g.165918976T>A	NCBI36
NG_008143.1:g.119819T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.2948T>A MANE Plus Clinical	ENSP00000486885.1:p.Leu983Ter
ENST00000375437.7:c.2948T>A MANE Select	ENSP00000364586.2:p.Leu983Ter
ENST00000636071.2:c.2948T>A	ENSP00000490107.1:p.Leu983Ter
ENST00000636135.1:c.*1267T>A	ENSP00000489821.1:n.*1267T>A
ENST00000636384.2:c.*935T>A	ENSP00000490765.1:n.*935T>A
ENST00000636662.2:c.*3471T>A	ENSP00000489873.1:n.*3471T>A
ENST00000636769.1:c.*890T>A	ENSP00000490800.1:n.*890T>A
ENST00000636985.2:c.2552T>A	ENSP00000490849.1:p.Leu851Ter
ENST00000637266.2:c.2948T>A	ENSP00000490866.1:p.Leu983Ter
ENST00000673831.1:c.694T>A	ENSP00000501305.1:n.694T>A
ENST00000673883.1:c.513T>A	ENSP00000501309.1:n.513T>A
ENST00000674133.1:c.799T>A
ENST00000283256.10:c.2948T>A	ENSP00000283256.6:p.Leu983Ter
ENST00000375427.4:c.2948T>A	ENSP00000364576.2:p.Leu983Ter
ENST00000375437.6:c.2948T>A	ENSP00000364586.2:p.Leu983Ter
ENST00000480032.4:n.3091T>A
ENST00000631182.2:c.2948T>A	ENSP00000486885.1:p.Leu983Ter
NM_001040142.1:c.2948T>A	NP_001035232.1:p.Leu983Ter
NM_001040143.1:c.2948T>A	NP_001035233.1:p.Leu983Ter
NM_021007.2:c.2948T>A	NP_066287.2:p.Leu983Ter
XM_005246750.2:c.2948T>A	XP_005246807.1:p.Leu983Ter
XM_005246753.2:c.2948T>A	XP_005246810.1:p.Leu983Ter
XM_005246754.3:c.2918T>A	XP_005246811.1:p.Leu973Ter
XM_005246755.3:c.2195T>A	XP_005246812.1:p.Leu732Ter
XM_011511608.1:c.2948T>A	XP_011509910.1:p.Leu983Ter
XM_011511609.1:c.2948T>A	XP_011509911.1:p.Leu983Ter
XM_005246753.3:c.2948T>A	XP_005246810.1:p.Leu983Ter
XM_017004656.1:c.2948T>A	XP_016860145.1:p.Leu983Ter
XM_017004657.1:c.2948T>A	XP_016860146.1:p.Leu983Ter
XM_017004658.1:c.2195T>A	XP_016860147.1:p.Leu732Ter
XM_017004659.1:c.746T>A	XP_016860148.1:p.Leu249Ter
XM_024453037.1:c.2195T>A	XP_024308805.1:p.Leu732Ter
NM_001040142.2:c.2948T>A MANE Select	NP_001035232.1:p.Leu983Ter
NM_001040143.2:c.2948T>A	NP_001035233.1:p.Leu983Ter
NM_001371246.1:c.2948T>A MANE Plus Clinical	NP_001358175.1:p.Leu983Ter
NM_001371247.1:c.2948T>A	NP_001358176.1:p.Leu983Ter
NM_021007.3:c.2948T>A	NP_066287.2:p.Leu983Ter