Canonical Allele Identifier: CA10611093

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 331726
• ClinVar RCV Id: RCV000328534
• dbSNP Id: rs886054999
• MyVariant Identifiers: chr2:g.166150631A>G (hg19) ; chr2:g.165294121A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165294121A>G , CM000664.2:g.165294121A>G	GRCh38
NC_000002.11:g.166150631A>G , CM000664.1:g.166150631A>G	GRCh37
NC_000002.10:g.165858877A>G	NCBI36
NG_008143.1:g.59720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.-51-1652A>G MANE Plus Clinical	ENSP00000486885.1:n.-51-1652A>G
ENST00000375437.7:c.-51-1652A>G MANE Select	ENSP00000364586.2:n.-51-1652A>G
ENST00000635945.1:n.313-1652A>G
ENST00000636071.2:c.-51-1652A>G	ENSP00000490107.1:n.-51-1652A>G
ENST00000636135.1:c.-51-1652A>G	ENSP00000489821.1:n.-51-1652A>G
ENST00000636384.2:c.-51-1652A>G	ENSP00000490765.1:n.-51-1652A>G
ENST00000636662.2:c.-66A>G	ENSP00000489873.1:n.-66A>G
ENST00000636769.1:c.-66A>G	ENSP00000490800.1:n.-66A>G
ENST00000636985.2:c.-552-1759A>G	ENSP00000490849.1:n.-552-1759A>G
ENST00000637266.2:c.-51-1652A>G	ENSP00000490866.1:n.-51-1652A>G
ENST00000637367.1:c.-51-1652A>G	ENSP00000490592.1:n.-51-1652A>G
ENST00000638151.1:n.141-1759A>G
ENST00000283256.10:c.-66A>G	ENSP00000283256.6:n.-66A>G
ENST00000375437.6:c.-51-1652A>G	ENSP00000364586.2:n.-51-1652A>G
ENST00000424833.5:c.-51-1652A>G	ENSP00000406454.2:n.-51-1652A>G
ENST00000480032.4:n.78A>G
ENST00000631182.2:c.-51-1652A>G	ENSP00000486885.1:n.-51-1652A>G
NM_001040142.1:c.-51-1652A>G	NP_001035232.1:n.-51-1652A>G
NM_021007.2:c.-66A>G	NP_066287.2:n.-66A>G
XM_005246750.2:c.-51-1652A>G	XP_005246807.1:n.-51-1652A>G
XM_005246753.2:c.-51-1652A>G	XP_005246810.1:n.-51-1652A>G
XM_005246754.3:c.27-1759A>G	XP_005246811.1:n.27-1759A>G
XM_011511608.1:c.-51-1652A>G	XP_011509910.1:n.-51-1652A>G
XM_011511609.1:c.-51-1652A>G	XP_011509911.1:n.-51-1652A>G
XM_005246753.3:c.-51-1652A>G	XP_005246810.1:n.-51-1652A>G
XM_017004656.1:c.-51-1652A>G	XP_016860145.1:n.-51-1652A>G
XM_017004657.1:c.-66A>G	XP_016860146.1:n.-66A>G
XM_017004658.1:c.-991-1652A>G	XP_016860147.1:n.-991-1652A>G
XM_024453037.1:c.-712-1652A>G	XP_024308805.1:n.-712-1652A>G
NM_001040142.2:c.-51-1652A>G MANE Select	NP_001035232.1:n.-51-1652A>G
NM_001040143.2:c.-51-1652A>G	NP_001035233.1:n.-51-1652A>G
NM_001371246.1:c.-51-1652A>G MANE Plus Clinical	NP_001358175.1:n.-51-1652A>G
NM_001371247.1:c.-51-1652A>G	NP_001358176.1:n.-51-1652A>G
NM_021007.3:c.-66A>G	NP_066287.2:n.-66A>G