Canonical Allele Identifier: CA349037706

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 2931831
• ClinVar RCV Id: RCV003792853
• MyVariant Identifiers: chr2:g.166245202G>C (hg19) ; chr2:g.165388692G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165388692G>C , CM000664.2:g.165388692G>C	GRCh38
NC_000002.11:g.166245202G>C , CM000664.1:g.166245202G>C	GRCh37
NC_000002.10:g.165953448G>C	NCBI36
NG_008143.1:g.154291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.4886G>C MANE Plus Clinical	ENSP00000486885.1:p.Arg1629Pro
ENST00000375437.7:c.4886G>C MANE Select	ENSP00000364586.2:p.Arg1629Pro
ENST00000636071.2:c.4886G>C	ENSP00000490107.1:p.Arg1629Pro
ENST00000636135.1:c.*3205G>C	ENSP00000489821.1:n.*3205G>C
ENST00000636384.2:c.*2873G>C	ENSP00000490765.1:n.*2873G>C
ENST00000636662.2:c.*5409G>C	ENSP00000489873.1:n.*5409G>C
ENST00000636769.1:c.*2828G>C	ENSP00000490800.1:n.*2828G>C
ENST00000636985.2:c.4490G>C	ENSP00000490849.1:p.Arg1497Pro
ENST00000637266.2:c.4886G>C	ENSP00000490866.1:p.Arg1629Pro
ENST00000283256.10:c.4886G>C	ENSP00000283256.6:p.Arg1629Pro
ENST00000375427.4:c.4886G>C	ENSP00000364576.2:p.Arg1629Pro
ENST00000375437.6:c.4886G>C	ENSP00000364586.2:p.Arg1629Pro
ENST00000480032.4:n.8317G>C
ENST00000631182.2:c.4886G>C	ENSP00000486885.1:p.Arg1629Pro
NM_001040142.1:c.4886G>C	NP_001035232.1:p.Arg1629Pro
NM_001040143.1:c.4886G>C	NP_001035233.1:p.Arg1629Pro
NM_021007.2:c.4886G>C	NP_066287.2:p.Arg1629Pro
XM_005246750.2:c.4886G>C	XP_005246807.1:p.Arg1629Pro
XM_005246753.2:c.4886G>C	XP_005246810.1:p.Arg1629Pro
XM_005246754.3:c.4856G>C	XP_005246811.1:p.Arg1619Pro
XM_005246755.3:c.4133G>C	XP_005246812.1:p.Arg1378Pro
XM_011511608.1:c.4886G>C	XP_011509910.1:p.Arg1629Pro
XM_011511609.1:c.4886G>C	XP_011509911.1:p.Arg1629Pro
XM_005246753.3:c.4886G>C	XP_005246810.1:p.Arg1629Pro
XM_017004656.1:c.4886G>C	XP_016860145.1:p.Arg1629Pro
XM_017004657.1:c.4886G>C	XP_016860146.1:p.Arg1629Pro
XM_017004658.1:c.4133G>C	XP_016860147.1:p.Arg1378Pro
XM_017004659.1:c.2684G>C	XP_016860148.1:p.Arg895Pro
XM_024453037.1:c.4133G>C	XP_024308805.1:p.Arg1378Pro
NM_001040142.2:c.4886G>C MANE Select	NP_001035232.1:p.Arg1629Pro
NM_001040143.2:c.4886G>C	NP_001035233.1:p.Arg1629Pro
NM_001371246.1:c.4886G>C MANE Plus Clinical	NP_001358175.1:p.Arg1629Pro
NM_001371247.1:c.4886G>C	NP_001358176.1:p.Arg1629Pro
NM_021007.3:c.4886G>C	NP_066287.2:p.Arg1629Pro