Canonical Allele Identifier: CA429972476

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 2950597
• ClinVar RCV Id: RCV003809907
• gnomAD v4: 2-165354518-A-G
• MyVariant Identifiers: chr2:g.166211028A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165354518A>G , CM000664.2:g.165354518A>G	GRCh38
NC_000002.11:g.166211028A>G , CM000664.1:g.166211028A>G	GRCh37
NC_000002.10:g.165919274A>G	NCBI36
NG_008143.1:g.120117A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3246A>G MANE Plus Clinical	ENSP00000486885.1:p.Val1082=
ENST00000375437.7:c.3246A>G MANE Select	ENSP00000364586.2:p.Val1082=
ENST00000636071.2:c.3246A>G	ENSP00000490107.1:p.Val1082=
ENST00000636135.1:c.*1565A>G	ENSP00000489821.1:n.*1565A>G
ENST00000636384.2:c.*1233A>G	ENSP00000490765.1:n.*1233A>G
ENST00000636662.2:c.*3769A>G	ENSP00000489873.1:n.*3769A>G
ENST00000636769.1:c.*1188A>G	ENSP00000490800.1:n.*1188A>G
ENST00000636985.2:c.2850A>G	ENSP00000490849.1:p.Val950=
ENST00000637266.2:c.3246A>G	ENSP00000490866.1:p.Val1082=
ENST00000673831.1:c.992A>G	ENSP00000501305.1:n.992A>G
ENST00000673883.1:c.811A>G	ENSP00000501309.1:n.811A>G
ENST00000674133.1:c.1097A>G
ENST00000283256.10:c.3246A>G	ENSP00000283256.6:p.Val1082=
ENST00000375427.4:c.3246A>G	ENSP00000364576.2:p.Val1082=
ENST00000375437.6:c.3246A>G	ENSP00000364586.2:p.Val1082=
ENST00000480032.4:n.3389A>G
ENST00000631182.2:c.3246A>G	ENSP00000486885.1:p.Val1082=
NM_001040142.1:c.3246A>G	NP_001035232.1:p.Val1082=
NM_001040143.1:c.3246A>G	NP_001035233.1:p.Val1082=
NM_021007.2:c.3246A>G	NP_066287.2:p.Val1082=
XM_005246750.2:c.3246A>G	XP_005246807.1:p.Val1082=
XM_005246753.2:c.3246A>G	XP_005246810.1:p.Val1082=
XM_005246754.3:c.3216A>G	XP_005246811.1:p.Val1072=
XM_005246755.3:c.2493A>G	XP_005246812.1:p.Val831=
XM_011511608.1:c.3246A>G	XP_011509910.1:p.Val1082=
XM_011511609.1:c.3246A>G	XP_011509911.1:p.Val1082=
XM_005246753.3:c.3246A>G	XP_005246810.1:p.Val1082=
XM_017004656.1:c.3246A>G	XP_016860145.1:p.Val1082=
XM_017004657.1:c.3246A>G	XP_016860146.1:p.Val1082=
XM_017004658.1:c.2493A>G	XP_016860147.1:p.Val831=
XM_017004659.1:c.1044A>G	XP_016860148.1:p.Val348=
XM_024453037.1:c.2493A>G	XP_024308805.1:p.Val831=
NM_001040142.2:c.3246A>G MANE Select	NP_001035232.1:p.Val1082=
NM_001040143.2:c.3246A>G	NP_001035233.1:p.Val1082=
NM_001371246.1:c.3246A>G MANE Plus Clinical	NP_001358175.1:p.Val1082=
NM_001371247.1:c.3246A>G	NP_001358176.1:p.Val1082=
NM_021007.3:c.3246A>G	NP_066287.2:p.Val1082=