Canonical Allele Identifier: CA349021117

Gene: SCN2A

Linked Data

• COSMIC: COSM5118837
• MyVariant Identifiers: chr2:g.166170238G>T (hg19) ; chr2:g.165313728G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165313728G>T , CM000664.2:g.165313728G>T	GRCh38
NC_000002.11:g.166170238G>T , CM000664.1:g.166170238G>T	GRCh37
NC_000002.10:g.165878484G>T	NCBI36
NG_008143.1:g.79327G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.1143G>T MANE Plus Clinical	ENSP00000486885.1:p.Met381Ile
ENST00000375437.7:c.1143G>T MANE Select	ENSP00000364586.2:p.Met381Ile
ENST00000635945.1:n.1506G>T
ENST00000636071.2:c.1143G>T	ENSP00000490107.1:p.Met381Ile
ENST00000636135.1:c.1014G>T	ENSP00000489821.1:p.Met338Ile
ENST00000636384.2:c.1143G>T	ENSP00000490765.1:p.Met381Ile
ENST00000636662.2:c.*1666G>T	ENSP00000489873.1:n.*1666G>T
ENST00000636769.1:c.1143G>T	ENSP00000490800.1:p.Met381Ile
ENST00000636985.2:c.747G>T	ENSP00000490849.1:p.Met249Ile
ENST00000637266.2:c.1143G>T	ENSP00000490866.1:p.Met381Ile
ENST00000637367.1:c.*1076G>T	ENSP00000490592.1:n.*1076G>T
ENST00000638151.1:n.1227G>T
ENST00000283256.10:c.1143G>T	ENSP00000283256.6:p.Met381Ile
ENST00000375427.4:c.1143G>T	ENSP00000364576.2:p.Met381Ile
ENST00000375437.6:c.1143G>T	ENSP00000364586.2:p.Met381Ile
ENST00000424833.5:c.1143G>T	ENSP00000406454.2:p.Met381Ile
ENST00000480032.4:n.1286G>T
ENST00000631182.2:c.1143G>T	ENSP00000486885.1:p.Met381Ile
NM_001040142.1:c.1143G>T	NP_001035232.1:p.Met381Ile
NM_001040143.1:c.1143G>T	NP_001035233.1:p.Met381Ile
NM_021007.2:c.1143G>T	NP_066287.2:p.Met381Ile
XM_005246750.2:c.1143G>T	XP_005246807.1:p.Met381Ile
XM_005246753.2:c.1143G>T	XP_005246810.1:p.Met381Ile
XM_005246754.3:c.1113G>T	XP_005246811.1:p.Met371Ile
XM_005246755.3:c.390G>T	XP_005246812.1:p.Met130Ile
XM_011511608.1:c.1143G>T	XP_011509910.1:p.Met381Ile
XM_011511609.1:c.1143G>T	XP_011509911.1:p.Met381Ile
XM_005246753.3:c.1143G>T	XP_005246810.1:p.Met381Ile
XM_017004656.1:c.1143G>T	XP_016860145.1:p.Met381Ile
XM_017004657.1:c.1143G>T	XP_016860146.1:p.Met381Ile
XM_017004658.1:c.390G>T	XP_016860147.1:p.Met130Ile
XM_024453037.1:c.390G>T	XP_024308805.1:p.Met130Ile
NM_001040142.2:c.1143G>T MANE Select	NP_001035232.1:p.Met381Ile
NM_001040143.2:c.1143G>T	NP_001035233.1:p.Met381Ile
NM_001371246.1:c.1143G>T MANE Plus Clinical	NP_001358175.1:p.Met381Ile
NM_001371247.1:c.1143G>T	NP_001358176.1:p.Met381Ile
NM_021007.3:c.1143G>T	NP_066287.2:p.Met381Ile