Canonical Allele Identifier: CA349017588

Gene: SCN2A

Linked Data

• MyVariant Identifiers: chr2:g.166165940T>G (hg19) ; chr2:g.165309430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165309430T>G , CM000664.2:g.165309430T>G	GRCh38
NC_000002.11:g.166165940T>G , CM000664.1:g.166165940T>G	GRCh37
NC_000002.10:g.165874186T>G	NCBI36
NG_008143.1:g.75029T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.697+174T>G MANE Plus Clinical	ENSP00000486885.1:n.697+174T>G
ENST00000375437.7:c.684T>G MANE Select	ENSP00000364586.2:p.Ile228Met
ENST00000635945.1:n.1047T>G
ENST00000636071.2:c.697+174T>G	ENSP00000490107.1:n.697+174T>G
ENST00000636135.1:c.555T>G	ENSP00000489821.1:p.Ile185Met
ENST00000636384.2:c.684T>G	ENSP00000490765.1:p.Ile228Met
ENST00000636662.2:c.*1207T>G	ENSP00000489873.1:n.*1207T>G
ENST00000636769.1:c.684T>G	ENSP00000490800.1:p.Ile228Met
ENST00000636985.2:c.288T>G	ENSP00000490849.1:p.Ile96Met
ENST00000637266.2:c.684T>G	ENSP00000490866.1:p.Ile228Met
ENST00000637367.1:c.*617T>G	ENSP00000490592.1:n.*617T>G
ENST00000638151.1:n.768T>G
ENST00000283256.10:c.684T>G	ENSP00000283256.6:p.Ile228Met
ENST00000375427.4:c.697+174T>G	ENSP00000364576.2:n.697+174T>G
ENST00000375437.6:c.684T>G	ENSP00000364586.2:p.Ile228Met
ENST00000424833.5:c.684T>G	ENSP00000406454.2:p.Ile228Met
ENST00000480032.4:n.827T>G
ENST00000486878.2:c.225T>G	ENSP00000487466.1:p.Ile75Met
ENST00000631182.2:c.697+174T>G	ENSP00000486885.1:n.697+174T>G
NM_001040142.1:c.684T>G	NP_001035232.1:p.Ile228Met
NM_001040143.1:c.697+174T>G	NP_001035233.1:n.697+174T>G
NM_021007.2:c.684T>G	NP_066287.2:p.Ile228Met
XM_005246750.2:c.684T>G	XP_005246807.1:p.Ile228Met
XM_005246753.2:c.697+174T>G	XP_005246810.1:n.697+174T>G
XM_005246754.3:c.654T>G	XP_005246811.1:p.Ile218Met
XM_005246755.3:c.-57+636T>G	XP_005246812.1:n.-57+636T>G
XM_011511608.1:c.684T>G	XP_011509910.1:p.Ile228Met
XM_011511609.1:c.684T>G	XP_011509911.1:p.Ile228Met
XM_005246753.3:c.697+174T>G	XP_005246810.1:n.697+174T>G
XM_017004656.1:c.684T>G	XP_016860145.1:p.Ile228Met
XM_017004657.1:c.697+174T>G	XP_016860146.1:n.697+174T>G
XM_017004658.1:c.-70T>G	XP_016860147.1:n.-70T>G
XM_024453037.1:c.-57+636T>G	XP_024308805.1:n.-57+636T>G
NM_001040142.2:c.684T>G MANE Select	NP_001035232.1:p.Ile228Met
NM_001040143.2:c.697+174T>G	NP_001035233.1:n.697+174T>G
NM_001371246.1:c.697+174T>G MANE Plus Clinical	NP_001358175.1:n.697+174T>G
NM_001371247.1:c.684T>G	NP_001358176.1:p.Ile228Met
NM_021007.3:c.684T>G	NP_066287.2:p.Ile228Met