Canonical Allele Identifier: CA349239608

Gene: SCN3A SCN2A

Linked Data

• ClinVar Variation Id: 431726
• ClinVar RCV Id: RCV000655959 ; RCV001856998 ; RCV002250643
• dbSNP Id: rs1553537132
• MyVariant Identifiers: chr2:g.166020196A>G (hg19) ; chr2:g.165163686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165163686A>G , CM000664.2:g.165163686A>G	GRCh38
NC_000002.11:g.166020196A>G , CM000664.1:g.166020196A>G	GRCh37
NC_000002.10:g.165728442A>G	NCBI36
NG_042289.1:g.45403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.694+116T>C (SCN3A)	ENSP00000516211.1:n.694+116T>C
ENST00000283254.12:c.626T>C (SCN3A) MANE Select	ENSP00000283254.7:p.Leu209Pro
ENST00000638473.1:c.626T>C (SCN3A)	ENSP00000491552.1:p.Leu209Pro
ENST00000639244.1:c.626T>C (SCN3A)	ENSP00000492251.1:p.Leu209Pro
ENST00000640652.1:c.694+116T>C (SCN3A)	ENSP00000492807.1:n.694+116T>C
ENST00000668657.1:c.626T>C (SCN3A)	ENSP00000499420.1:p.Leu209Pro
ENST00000283254.11:c.626T>C (SCN3A)	ENSP00000283254.7:p.Leu209Pro
ENST00000360093.7:c.694+116T>C (SCN3A)	ENSP00000353206.3:n.694+116T>C
ENST00000409101.7:c.694+116T>C (SCN3A)	ENSP00000386726.3:n.694+116T>C
ENST00000440431.6:c.626T>C (SCN3A)	ENSP00000403348.1:p.Leu209Pro
NM_001081676.1:c.626T>C (SCN3A)	NP_001075145.1:p.Leu209Pro
NM_001081677.1:c.694+116T>C (SCN3A)	NP_001075146.1:n.694+116T>C
NM_006922.3:c.626T>C (SCN3A)	NP_008853.3:p.Leu209Pro
XM_005246750.2:c.-124-31441A>G (SCN2A)	XP_005246807.1:n.-124-31441A>G
XM_006712679.1:c.626T>C (SCN3A)	XP_006712742.1:p.Leu209Pro
XM_011511608.1:c.-392-31210A>G (SCN2A)	XP_011509910.1:n.-392-31210A>G
XM_011511609.1:c.-277-31441A>G (SCN2A)	XP_011509911.1:n.-277-31441A>G
XM_011511610.1:c.626T>C (SCN3A)	XP_011509912.1:p.Leu209Pro
XM_011511611.1:c.694+116T>C (SCN3A)	XP_011509913.1:n.694+116T>C
XM_011511612.1:c.626T>C (SCN3A)	XP_011509914.1:p.Leu209Pro
XM_011511614.1:c.626T>C (SCN3A)	XP_011509916.1:p.Leu209Pro
XM_011511610.3:c.626T>C (SCN3A)	XP_011509912.1:p.Leu209Pro
XM_011511613.3:c.-1131T>C (SCN3A)	XP_011509915.1:n.-1131T>C
XM_017004660.2:c.694+116T>C (SCN3A)	XP_016860149.1:n.694+116T>C
XM_017004661.2:c.626T>C (SCN3A)	XP_016860150.1:p.Leu209Pro
XM_017004662.2:c.626T>C (SCN3A)	XP_016860151.1:p.Leu209Pro
XM_017004663.2:c.-1131T>C (SCN3A)	XP_016860152.1:n.-1131T>C
XM_017004664.1:c.626T>C (SCN3A)	XP_016860153.1:p.Leu209Pro
XM_017004665.1:c.626T>C (SCN3A)	XP_016860154.1:p.Leu209Pro
XM_017004666.1:c.626T>C (SCN3A)	XP_016860155.1:p.Leu209Pro
NM_006922.4:c.626T>C (SCN3A) MANE Select	NP_008853.3:p.Leu209Pro
NM_001081676.2:c.626T>C (SCN3A)	NP_001075145.1:p.Leu209Pro
NM_001081677.2:c.694+116T>C (SCN3A)	NP_001075146.1:n.694+116T>C