Canonical Allele Identifier: CA349016594

Gene: SCN2A

Linked Data

• gnomAD v4: 2-165308752-G-T
• MyVariant Identifiers: chr2:g.166165262G>T (hg19) ; chr2:g.165308752G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165308752G>T , CM000664.2:g.165308752G>T	GRCh38
NC_000002.11:g.166165262G>T , CM000664.1:g.166165262G>T	GRCh37
NC_000002.10:g.165873508G>T	NCBI36
NG_008143.1:g.74351G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.563G>T MANE Plus Clinical	ENSP00000486885.1:p.Arg188Leu
ENST00000375437.7:c.563G>T MANE Select	ENSP00000364586.2:p.Arg188Leu
ENST00000635945.1:n.926G>T
ENST00000636071.2:c.563G>T	ENSP00000490107.1:p.Arg188Leu
ENST00000636135.1:c.477-600G>T	ENSP00000489821.1:n.477-600G>T
ENST00000636384.2:c.563G>T	ENSP00000490765.1:p.Arg188Leu
ENST00000636662.2:c.*1086G>T	ENSP00000489873.1:n.*1086G>T
ENST00000636769.1:c.563G>T	ENSP00000490800.1:p.Arg188Leu
ENST00000636985.2:c.167G>T	ENSP00000490849.1:p.Arg56Leu
ENST00000637266.2:c.563G>T	ENSP00000490866.1:p.Arg188Leu
ENST00000637367.1:c.*496G>T	ENSP00000490592.1:n.*496G>T
ENST00000638151.1:n.647G>T
ENST00000283256.10:c.563G>T	ENSP00000283256.6:p.Arg188Leu
ENST00000375427.4:c.563G>T	ENSP00000364576.2:p.Arg188Leu
ENST00000375437.6:c.563G>T	ENSP00000364586.2:p.Arg188Leu
ENST00000424833.5:c.563G>T	ENSP00000406454.2:p.Arg188Leu
ENST00000480032.4:n.706G>T
ENST00000486878.2:c.104G>T	ENSP00000487466.1:p.Arg35Leu
ENST00000631182.2:c.563G>T	ENSP00000486885.1:p.Arg188Leu
NM_001040142.1:c.563G>T	NP_001035232.1:p.Arg188Leu
NM_001040143.1:c.563G>T	NP_001035233.1:p.Arg188Leu
NM_021007.2:c.563G>T	NP_066287.2:p.Arg188Leu
XM_005246750.2:c.563G>T	XP_005246807.1:p.Arg188Leu
XM_005246753.2:c.563G>T	XP_005246810.1:p.Arg188Leu
XM_005246754.3:c.533G>T	XP_005246811.1:p.Arg178Leu
XM_005246755.3:c.-99G>T	XP_005246812.1:n.-99G>T
XM_011511608.1:c.563G>T	XP_011509910.1:p.Arg188Leu
XM_011511609.1:c.563G>T	XP_011509911.1:p.Arg188Leu
XM_005246753.3:c.563G>T	XP_005246810.1:p.Arg188Leu
XM_017004656.1:c.563G>T	XP_016860145.1:p.Arg188Leu
XM_017004657.1:c.563G>T	XP_016860146.1:p.Arg188Leu
XM_017004658.1:c.-378G>T	XP_016860147.1:n.-378G>T
XM_024453037.1:c.-99G>T	XP_024308805.1:n.-99G>T
NM_001040142.2:c.563G>T MANE Select	NP_001035232.1:p.Arg188Leu
NM_001040143.2:c.563G>T	NP_001035233.1:p.Arg188Leu
NM_001371246.1:c.563G>T MANE Plus Clinical	NP_001358175.1:p.Arg188Leu
NM_001371247.1:c.563G>T	NP_001358176.1:p.Arg188Leu
NM_021007.3:c.563G>T	NP_066287.2:p.Arg188Leu