Canonical Allele Identifier: CA1940168

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 331733
• ClinVar RCV Id: RCV000332510 ; RCV000368458 ; RCV000929941 ; RCV003430838
• dbSNP Id: rs527970192
• ExAC: 2:166226695 T / C
• gnomAD v2: 2-166226695-T-C
• gnomAD v3: 2-165370185-T-C
• gnomAD v4: 2-165370185-T-C
• COSMIC: COSM4086227 ; COSM4086228
• MyVariant Identifiers: chr2:g.166226695T>C (hg19) ; chr2:g.165370185T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165370185T>C , CM000664.2:g.165370185T>C	GRCh38
NC_000002.11:g.166226695T>C , CM000664.1:g.166226695T>C	GRCh37
NC_000002.10:g.165934941T>C	NCBI36
NG_008143.1:g.135784T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3735T>C MANE Plus Clinical	ENSP00000486885.1:p.Ala1245=
ENST00000375437.7:c.3735T>C MANE Select	ENSP00000364586.2:p.Ala1245=
ENST00000636071.2:c.3735T>C	ENSP00000490107.1:p.Ala1245=
ENST00000636135.1:c.*2054T>C	ENSP00000489821.1:n.*2054T>C
ENST00000636384.2:c.*1722T>C	ENSP00000490765.1:n.*1722T>C
ENST00000636662.2:c.*4258T>C	ENSP00000489873.1:n.*4258T>C
ENST00000636769.1:c.*1677T>C	ENSP00000490800.1:n.*1677T>C
ENST00000636985.2:c.3339T>C	ENSP00000490849.1:p.Ala1113=
ENST00000637266.2:c.3735T>C	ENSP00000490866.1:p.Ala1245=
ENST00000283256.10:c.3735T>C	ENSP00000283256.6:p.Ala1245=
ENST00000375427.4:c.3735T>C	ENSP00000364576.2:p.Ala1245=
ENST00000375437.6:c.3735T>C	ENSP00000364586.2:p.Ala1245=
ENST00000480032.4:n.3878T>C
ENST00000631182.2:c.3735T>C	ENSP00000486885.1:p.Ala1245=
NM_001040142.1:c.3735T>C	NP_001035232.1:p.Ala1245=
NM_001040143.1:c.3735T>C	NP_001035233.1:p.Ala1245=
NM_021007.2:c.3735T>C	NP_066287.2:p.Ala1245=
XM_005246750.2:c.3735T>C	XP_005246807.1:p.Ala1245=
XM_005246753.2:c.3735T>C	XP_005246810.1:p.Ala1245=
XM_005246754.3:c.3705T>C	XP_005246811.1:p.Ala1235=
XM_005246755.3:c.2982T>C	XP_005246812.1:p.Ala994=
XM_011511608.1:c.3735T>C	XP_011509910.1:p.Ala1245=
XM_011511609.1:c.3735T>C	XP_011509911.1:p.Ala1245=
XM_005246753.3:c.3735T>C	XP_005246810.1:p.Ala1245=
XM_017004656.1:c.3735T>C	XP_016860145.1:p.Ala1245=
XM_017004657.1:c.3735T>C	XP_016860146.1:p.Ala1245=
XM_017004658.1:c.2982T>C	XP_016860147.1:p.Ala994=
XM_017004659.1:c.1533T>C	XP_016860148.1:p.Ala511=
XM_024453037.1:c.2982T>C	XP_024308805.1:p.Ala994=
NM_001040142.2:c.3735T>C MANE Select	NP_001035232.1:p.Ala1245=
NM_001040143.2:c.3735T>C	NP_001035233.1:p.Ala1245=
NM_001371246.1:c.3735T>C MANE Plus Clinical	NP_001358175.1:p.Ala1245=
NM_001371247.1:c.3735T>C	NP_001358176.1:p.Ala1245=
NM_021007.3:c.3735T>C	NP_066287.2:p.Ala1245=