Canonical Allele Identifier: CA59719990

Gene: SCN2A

Linked Data

• dbSNP Id: rs1051662437
• gnomAD v2: 2-166201196-C-T
• gnomAD v3: 2-165344686-C-T
• gnomAD v4: 2-165344686-C-T
• COSMIC: COSM3312456 ; COSM3312457
• MyVariant Identifiers: chr2:g.166201196C>T (hg19) ; chr2:g.165344686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165344686C>T , CM000664.2:g.165344686C>T	GRCh38
NC_000002.11:g.166201196C>T , CM000664.1:g.166201196C>T	GRCh37
NC_000002.10:g.165909442C>T	NCBI36
NG_008143.1:g.110285C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.2694C>T MANE Plus Clinical	ENSP00000486885.1:p.Val898=
ENST00000375437.7:c.2694C>T MANE Select	ENSP00000364586.2:p.Val898=
ENST00000636071.2:c.2694C>T	ENSP00000490107.1:p.Val898=
ENST00000636135.1:c.*1013C>T	ENSP00000489821.1:n.*1013C>T
ENST00000636384.2:c.*681C>T	ENSP00000490765.1:n.*681C>T
ENST00000636662.2:c.*3217C>T	ENSP00000489873.1:n.*3217C>T
ENST00000636769.1:c.*636C>T	ENSP00000490800.1:n.*636C>T
ENST00000636985.2:c.2298C>T	ENSP00000490849.1:p.Val766=
ENST00000637266.2:c.2694C>T	ENSP00000490866.1:p.Val898=
ENST00000673831.1:c.132C>T	ENSP00000501305.1:p.Val44=
ENST00000673883.1:c.132C>T	ENSP00000501309.1:p.Val44=
ENST00000674133.1:c.545C>T
ENST00000283256.10:c.2694C>T	ENSP00000283256.6:p.Val898=
ENST00000375427.4:c.2694C>T	ENSP00000364576.2:p.Val898=
ENST00000375437.6:c.2694C>T	ENSP00000364586.2:p.Val898=
ENST00000480032.4:n.2837C>T
ENST00000631182.2:c.2694C>T	ENSP00000486885.1:p.Val898=
NM_001040142.1:c.2694C>T	NP_001035232.1:p.Val898=
NM_001040143.1:c.2694C>T	NP_001035233.1:p.Val898=
NM_021007.2:c.2694C>T	NP_066287.2:p.Val898=
XM_005246750.2:c.2694C>T	XP_005246807.1:p.Val898=
XM_005246753.2:c.2694C>T	XP_005246810.1:p.Val898=
XM_005246754.3:c.2664C>T	XP_005246811.1:p.Val888=
XM_005246755.3:c.1941C>T	XP_005246812.1:p.Val647=
XM_011511608.1:c.2694C>T	XP_011509910.1:p.Val898=
XM_011511609.1:c.2694C>T	XP_011509911.1:p.Val898=
XM_005246753.3:c.2694C>T	XP_005246810.1:p.Val898=
XM_017004656.1:c.2694C>T	XP_016860145.1:p.Val898=
XM_017004657.1:c.2694C>T	XP_016860146.1:p.Val898=
XM_017004658.1:c.1941C>T	XP_016860147.1:p.Val647=
XM_017004659.1:c.492C>T	XP_016860148.1:p.Val164=
XM_024453037.1:c.1941C>T	XP_024308805.1:p.Val647=
NM_001040142.2:c.2694C>T MANE Select	NP_001035232.1:p.Val898=
NM_001040143.2:c.2694C>T	NP_001035233.1:p.Val898=
NM_001371246.1:c.2694C>T MANE Plus Clinical	NP_001358175.1:p.Val898=
NM_001371247.1:c.2694C>T	NP_001358176.1:p.Val898=
NM_021007.3:c.2694C>T	NP_066287.2:p.Val898=