Canonical Allele Identifier: CA349015583

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 834373
• ClinVar RCV Id: RCV001035045
• dbSNP Id: rs1699484099
• MyVariant Identifiers: chr2:g.166201290C>T (hg19) ; chr2:g.165344780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165344780C>T , CM000664.2:g.165344780C>T	GRCh38
NC_000002.11:g.166201290C>T , CM000664.1:g.166201290C>T	GRCh37
NC_000002.10:g.165909536C>T	NCBI36
NG_008143.1:g.110379C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.2788C>T MANE Plus Clinical	ENSP00000486885.1:p.His930Tyr
ENST00000375437.7:c.2788C>T MANE Select	ENSP00000364586.2:p.His930Tyr
ENST00000636071.2:c.2788C>T	ENSP00000490107.1:p.His930Tyr
ENST00000636135.1:c.*1107C>T	ENSP00000489821.1:n.*1107C>T
ENST00000636384.2:c.*775C>T	ENSP00000490765.1:n.*775C>T
ENST00000636662.2:c.*3311C>T	ENSP00000489873.1:n.*3311C>T
ENST00000636769.1:c.*730C>T	ENSP00000490800.1:n.*730C>T
ENST00000636985.2:c.2392C>T	ENSP00000490849.1:p.His798Tyr
ENST00000637266.2:c.2788C>T	ENSP00000490866.1:p.His930Tyr
ENST00000673831.1:c.226C>T	ENSP00000501305.1:p.His76Tyr
ENST00000673883.1:c.226C>T	ENSP00000501309.1:p.His76Tyr
ENST00000674133.1:c.639C>T
ENST00000283256.10:c.2788C>T	ENSP00000283256.6:p.His930Tyr
ENST00000375427.4:c.2788C>T	ENSP00000364576.2:p.His930Tyr
ENST00000375437.6:c.2788C>T	ENSP00000364586.2:p.His930Tyr
ENST00000480032.4:n.2931C>T
ENST00000631182.2:c.2788C>T	ENSP00000486885.1:p.His930Tyr
NM_001040142.1:c.2788C>T	NP_001035232.1:p.His930Tyr
NM_001040143.1:c.2788C>T	NP_001035233.1:p.His930Tyr
NM_021007.2:c.2788C>T	NP_066287.2:p.His930Tyr
XM_005246750.2:c.2788C>T	XP_005246807.1:p.His930Tyr
XM_005246753.2:c.2788C>T	XP_005246810.1:p.His930Tyr
XM_005246754.3:c.2758C>T	XP_005246811.1:p.His920Tyr
XM_005246755.3:c.2035C>T	XP_005246812.1:p.His679Tyr
XM_011511608.1:c.2788C>T	XP_011509910.1:p.His930Tyr
XM_011511609.1:c.2788C>T	XP_011509911.1:p.His930Tyr
XM_005246753.3:c.2788C>T	XP_005246810.1:p.His930Tyr
XM_017004656.1:c.2788C>T	XP_016860145.1:p.His930Tyr
XM_017004657.1:c.2788C>T	XP_016860146.1:p.His930Tyr
XM_017004658.1:c.2035C>T	XP_016860147.1:p.His679Tyr
XM_017004659.1:c.586C>T	XP_016860148.1:p.His196Tyr
XM_024453037.1:c.2035C>T	XP_024308805.1:p.His679Tyr
NM_001040142.2:c.2788C>T MANE Select	NP_001035232.1:p.His930Tyr
NM_001040143.2:c.2788C>T	NP_001035233.1:p.His930Tyr
NM_001371246.1:c.2788C>T MANE Plus Clinical	NP_001358175.1:p.His930Tyr
NM_001371247.1:c.2788C>T	NP_001358176.1:p.His930Tyr
NM_021007.3:c.2788C>T	NP_066287.2:p.His930Tyr