Canonical Allele Identifier: CA10611458

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 331708
• ClinVar RCV Id: RCV000292699 ; RCV000331282
• dbSNP Id: rs67417831
• gnomAD v2: 2-166150520-TA-T
• gnomAD v3: 2-165294010-TA-T
• gnomAD v4: 2-165294010-TA-T
• MyVariant Identifiers: chr2:g.166150548del (hg19) ; chr2:g.166150523del (hg19) ; chr2:g.166150521del (hg19) ; chr2:g.165294038del (hg38) ; chr2:g.165294013del (hg38) ; chr2:g.165294011del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165294038del , CM000664.2:g.165294038del	GRCh38
NC_000002.11:g.166150548del , CM000664.1:g.166150548del	GRCh37
NC_000002.10:g.165858794del	NCBI36
NG_008143.1:g.59637del

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.-51-1735del MANE Plus Clinical	ENSP00000486885.1:n.-51-1735del
ENST00000375437.7:c.-51-1735del MANE Select	ENSP00000364586.2:n.-51-1735del
ENST00000635945.1:n.313-1735del
ENST00000636071.2:c.-51-1735del	ENSP00000490107.1:n.-51-1735del
ENST00000636135.1:c.-51-1735del	ENSP00000489821.1:n.-51-1735del
ENST00000636384.2:c.-51-1735del	ENSP00000490765.1:n.-51-1735del
ENST00000636985.2:c.-552-1842del	ENSP00000490849.1:n.-552-1842del
ENST00000637266.2:c.-51-1735del	ENSP00000490866.1:n.-51-1735del
ENST00000637367.1:c.-51-1735del	ENSP00000490592.1:n.-51-1735del
ENST00000638151.1:n.141-1842del
ENST00000375437.6:c.-51-1735del	ENSP00000364586.2:n.-51-1735del
ENST00000424833.5:c.-51-1735del	ENSP00000406454.2:n.-51-1735del
ENST00000631182.2:c.-51-1735del	ENSP00000486885.1:n.-51-1735del
NM_001040142.1:c.-51-1735del	NP_001035232.1:n.-51-1735del
NM_021007.2:c.-149del	NP_066287.2:n.-149del
XM_005246750.2:c.-51-1735del	XP_005246807.1:n.-51-1735del
XM_005246753.2:c.-51-1735del	XP_005246810.1:n.-51-1735del
XM_005246754.3:c.27-1842del	XP_005246811.1:n.27-1842del
XM_011511608.1:c.-51-1735del	XP_011509910.1:n.-51-1735del
XM_011511609.1:c.-51-1735del	XP_011509911.1:n.-51-1735del
XM_005246753.3:c.-51-1735del	XP_005246810.1:n.-51-1735del
XM_017004656.1:c.-51-1735del	XP_016860145.1:n.-51-1735del
XM_017004658.1:c.-991-1735del	XP_016860147.1:n.-991-1735del
XM_024453037.1:c.-712-1735del	XP_024308805.1:n.-712-1735del
NM_001040142.2:c.-51-1735del MANE Select	NP_001035232.1:n.-51-1735del
NM_001040143.2:c.-51-1735del	NP_001035233.1:n.-51-1735del
NM_001371246.1:c.-51-1735del MANE Plus Clinical	NP_001358175.1:n.-51-1735del
NM_001371247.1:c.-51-1735del	NP_001358176.1:n.-51-1735del