Canonical Allele Identifier: CA349025769

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 3026693
• ClinVar RCV Id: RCV003887086
• MyVariant Identifiers: chr2:g.166223739A>T (hg19) ; chr2:g.165367229A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165367229A>T , CM000664.2:g.165367229A>T	GRCh38
NC_000002.11:g.166223739A>T , CM000664.1:g.166223739A>T	GRCh37
NC_000002.10:g.165931985A>T	NCBI36
NG_008143.1:g.132828A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3533A>T MANE Plus Clinical	ENSP00000486885.1:p.Lys1178Met
ENST00000375437.7:c.3533A>T MANE Select	ENSP00000364586.2:p.Lys1178Met
ENST00000636071.2:c.3533A>T	ENSP00000490107.1:p.Lys1178Met
ENST00000636135.1:c.*1852A>T	ENSP00000489821.1:n.*1852A>T
ENST00000636384.2:c.*1520A>T	ENSP00000490765.1:n.*1520A>T
ENST00000636662.2:c.*4056A>T	ENSP00000489873.1:n.*4056A>T
ENST00000636769.1:c.*1475A>T	ENSP00000490800.1:n.*1475A>T
ENST00000636985.2:c.3137A>T	ENSP00000490849.1:p.Lys1046Met
ENST00000637266.2:c.3533A>T	ENSP00000490866.1:p.Lys1178Met
ENST00000283256.10:c.3533A>T	ENSP00000283256.6:p.Lys1178Met
ENST00000375427.4:c.3533A>T	ENSP00000364576.2:p.Lys1178Met
ENST00000375437.6:c.3533A>T	ENSP00000364586.2:p.Lys1178Met
ENST00000480032.4:n.3676A>T
ENST00000631182.2:c.3533A>T	ENSP00000486885.1:p.Lys1178Met
NM_001040142.1:c.3533A>T	NP_001035232.1:p.Lys1178Met
NM_001040143.1:c.3533A>T	NP_001035233.1:p.Lys1178Met
NM_021007.2:c.3533A>T	NP_066287.2:p.Lys1178Met
XM_005246750.2:c.3533A>T	XP_005246807.1:p.Lys1178Met
XM_005246753.2:c.3533A>T	XP_005246810.1:p.Lys1178Met
XM_005246754.3:c.3503A>T	XP_005246811.1:p.Lys1168Met
XM_005246755.3:c.2780A>T	XP_005246812.1:p.Lys927Met
XM_011511608.1:c.3533A>T	XP_011509910.1:p.Lys1178Met
XM_011511609.1:c.3533A>T	XP_011509911.1:p.Lys1178Met
XM_005246753.3:c.3533A>T	XP_005246810.1:p.Lys1178Met
XM_017004656.1:c.3533A>T	XP_016860145.1:p.Lys1178Met
XM_017004657.1:c.3533A>T	XP_016860146.1:p.Lys1178Met
XM_017004658.1:c.2780A>T	XP_016860147.1:p.Lys927Met
XM_017004659.1:c.1331A>T	XP_016860148.1:p.Lys444Met
XM_024453037.1:c.2780A>T	XP_024308805.1:p.Lys927Met
NM_001040142.2:c.3533A>T MANE Select	NP_001035232.1:p.Lys1178Met
NM_001040143.2:c.3533A>T	NP_001035233.1:p.Lys1178Met
NM_001371246.1:c.3533A>T MANE Plus Clinical	NP_001358175.1:p.Lys1178Met
NM_001371247.1:c.3533A>T	NP_001358176.1:p.Lys1178Met
NM_021007.3:c.3533A>T	NP_066287.2:p.Lys1178Met