Canonical Allele Identifier: CA349014392

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 1427767
• ClinVar RCV Id: RCV001933874
• dbSNP Id: rs2105318835
• MyVariant Identifiers: chr2:g.166201182A>C (hg19) ; chr2:g.165344672A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165344672A>C , CM000664.2:g.165344672A>C	GRCh38
NC_000002.11:g.166201182A>C , CM000664.1:g.166201182A>C	GRCh37
NC_000002.10:g.165909428A>C	NCBI36
NG_008143.1:g.110271A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.2680A>C MANE Plus Clinical	ENSP00000486885.1:p.Ile894Leu
ENST00000375437.7:c.2680A>C MANE Select	ENSP00000364586.2:p.Ile894Leu
ENST00000636071.2:c.2680A>C	ENSP00000490107.1:p.Ile894Leu
ENST00000636135.1:c.*999A>C	ENSP00000489821.1:n.*999A>C
ENST00000636384.2:c.*667A>C	ENSP00000490765.1:n.*667A>C
ENST00000636662.2:c.*3203A>C	ENSP00000489873.1:n.*3203A>C
ENST00000636769.1:c.*622A>C	ENSP00000490800.1:n.*622A>C
ENST00000636985.2:c.2284A>C	ENSP00000490849.1:p.Ile762Leu
ENST00000637266.2:c.2680A>C	ENSP00000490866.1:p.Ile894Leu
ENST00000673831.1:c.118A>C	ENSP00000501305.1:p.Ile40Leu
ENST00000673883.1:c.118A>C	ENSP00000501309.1:p.Ile40Leu
ENST00000674133.1:c.531A>C
ENST00000283256.10:c.2680A>C	ENSP00000283256.6:p.Ile894Leu
ENST00000375427.4:c.2680A>C	ENSP00000364576.2:p.Ile894Leu
ENST00000375437.6:c.2680A>C	ENSP00000364586.2:p.Ile894Leu
ENST00000480032.4:n.2823A>C
ENST00000631182.2:c.2680A>C	ENSP00000486885.1:p.Ile894Leu
NM_001040142.1:c.2680A>C	NP_001035232.1:p.Ile894Leu
NM_001040143.1:c.2680A>C	NP_001035233.1:p.Ile894Leu
NM_021007.2:c.2680A>C	NP_066287.2:p.Ile894Leu
XM_005246750.2:c.2680A>C	XP_005246807.1:p.Ile894Leu
XM_005246753.2:c.2680A>C	XP_005246810.1:p.Ile894Leu
XM_005246754.3:c.2650A>C	XP_005246811.1:p.Ile884Leu
XM_005246755.3:c.1927A>C	XP_005246812.1:p.Ile643Leu
XM_011511608.1:c.2680A>C	XP_011509910.1:p.Ile894Leu
XM_011511609.1:c.2680A>C	XP_011509911.1:p.Ile894Leu
XM_005246753.3:c.2680A>C	XP_005246810.1:p.Ile894Leu
XM_017004656.1:c.2680A>C	XP_016860145.1:p.Ile894Leu
XM_017004657.1:c.2680A>C	XP_016860146.1:p.Ile894Leu
XM_017004658.1:c.1927A>C	XP_016860147.1:p.Ile643Leu
XM_017004659.1:c.478A>C	XP_016860148.1:p.Ile160Leu
XM_024453037.1:c.1927A>C	XP_024308805.1:p.Ile643Leu
NM_001040142.2:c.2680A>C MANE Select	NP_001035232.1:p.Ile894Leu
NM_001040143.2:c.2680A>C	NP_001035233.1:p.Ile894Leu
NM_001371246.1:c.2680A>C MANE Plus Clinical	NP_001358175.1:p.Ile894Leu
NM_001371247.1:c.2680A>C	NP_001358176.1:p.Ile894Leu
NM_021007.3:c.2680A>C	NP_066287.2:p.Ile894Leu