Canonical Allele Identifier: CA16043377

Gene: SCN3A SCN2A

Linked Data

• ClinVar Variation Id: 373960
• ClinVar RCV Id: RCV000415038 ; RCV000494116 ; RCV000625712 ; RCV001199328 ; RCV003243119
• dbSNP Id: rs1057518801
• COSMIC: COSM4599125 ; COSM4599126
• MyVariant Identifiers: chr2:g.165986748A>G (hg19) ; chr2:g.165130238A>G (hg38)
• ERepo: CA16043377/MONDO:0100062/069
• PubMed: PMID:27479843 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165130238A>G , CM000664.2:g.165130238A>G	GRCh38
NC_000002.11:g.165986748A>G , CM000664.1:g.165986748A>G	GRCh37
NC_000002.10:g.165694994A>G	NCBI36
NG_042289.1:g.78851T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.2573T>C (SCN3A)	ENSP00000516211.1:p.Ile858Thr
ENST00000283254.12:c.2624T>C (SCN3A) MANE Select	ENSP00000283254.7:p.Ile875Thr
ENST00000638473.1:c.*465T>C (SCN3A)	ENSP00000491552.1:n.*465T>C
ENST00000639244.1:c.2573T>C (SCN3A)	ENSP00000492251.1:p.Ile858Thr
ENST00000640652.1:c.2573T>C (SCN3A)	ENSP00000492807.1:p.Ile858Thr
ENST00000658209.1:c.722T>C (SCN3A)	ENSP00000499598.1:p.Ile241Thr
ENST00000668657.1:c.2486T>C (SCN3A)	ENSP00000499420.1:p.Ile829Thr
ENST00000283254.11:c.2624T>C (SCN3A)	ENSP00000283254.7:p.Ile875Thr
ENST00000360093.7:c.2624T>C (SCN3A)	ENSP00000353206.3:p.Ile875Thr
ENST00000409101.7:c.2477T>C (SCN3A)	ENSP00000386726.3:p.Ile826Thr
ENST00000440431.6:c.2477T>C (SCN3A)	ENSP00000403348.1:p.Ile826Thr
NM_001081676.1:c.2477T>C (SCN3A)	NP_001075145.1:p.Ile826Thr
NM_001081677.1:c.2477T>C (SCN3A)	NP_001075146.1:p.Ile826Thr
NM_006922.3:c.2624T>C (SCN3A)	NP_008853.3:p.Ile875Thr
XM_005246750.2:c.-125+34A>G (SCN2A)	XP_005246807.1:n.-125+34A>G
XM_006712679.1:c.2624T>C (SCN3A)	XP_006712742.1:p.Ile875Thr
XM_011511608.1:c.-393+34A>G (SCN2A)	XP_011509910.1:n.-393+34A>G
XM_011511609.1:c.-278+34A>G (SCN2A)	XP_011509911.1:n.-278+34A>G
XM_011511610.1:c.2624T>C (SCN3A)	XP_011509912.1:p.Ile875Thr
XM_011511611.1:c.2624T>C (SCN3A)	XP_011509913.1:p.Ile875Thr
XM_011511612.1:c.2573T>C (SCN3A)	XP_011509914.1:p.Ile858Thr
XM_011511613.1:c.734T>C (SCN3A)	XP_011509915.1:p.Ile245Thr
XM_011511614.1:c.2624T>C (SCN3A)	XP_011509916.1:p.Ile875Thr
XM_011511610.3:c.2624T>C (SCN3A)	XP_011509912.1:p.Ile875Thr
XM_011511613.3:c.734T>C (SCN3A)	XP_011509915.1:p.Ile245Thr
XM_017004660.2:c.2624T>C (SCN3A)	XP_016860149.1:p.Ile875Thr
XM_017004661.2:c.2573T>C (SCN3A)	XP_016860150.1:p.Ile858Thr
XM_017004662.2:c.2486T>C (SCN3A)	XP_016860151.1:p.Ile829Thr
XM_017004663.2:c.734T>C (SCN3A)	XP_016860152.1:p.Ile245Thr
XM_017004664.1:c.2624T>C (SCN3A)	XP_016860153.1:p.Ile875Thr
XM_017004665.1:c.2486T>C (SCN3A)	XP_016860154.1:p.Ile829Thr
XM_017004666.1:c.2477T>C (SCN3A)	XP_016860155.1:p.Ile826Thr
NM_006922.4:c.2624T>C (SCN3A) MANE Select	NP_008853.3:p.Ile875Thr
NM_001081676.2:c.2477T>C (SCN3A)	NP_001075145.1:p.Ile826Thr
NM_001081677.2:c.2477T>C (SCN3A)	NP_001075146.1:p.Ile826Thr