Canonical Allele Identifier: CA537488957

Gene: SCN2A

Linked Data

• dbSNP Id: rs1301464862
• gnomAD v2: 2-166127887-ATT-A
• gnomAD v3: 2-165271377-ATT-A
• gnomAD v4: 2-165271377-ATT-A
• MyVariant Identifiers: chr2:g.166127888_166127889del (hg19) ; chr2:g.165271378_165271379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165271378_165271379del , CM000664.2:g.165271378_165271379del	GRCh38
NC_000002.11:g.166127888_166127889del , CM000664.1:g.166127888_166127889del	GRCh37
NC_000002.10:g.165836134_165836135del	NCBI36
NG_008143.1:g.36977_36978del

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.-51-24395_-51-24394del MANE Plus Clinical	ENSP00000486885.1:n.-51-24395_-51-24394de...
ENST00000375437.7:c.-51-24395_-51-24394del MANE Select	ENSP00000364586.2:n.-51-24395_-51-24394de...
ENST00000635945.1:n.313-24395_313-24394del
ENST00000636071.2:c.-51-24395_-51-24394del	ENSP00000490107.1:n.-51-24395_-51-24394de...
ENST00000636135.1:c.-207-19252_-207-19251del	ENSP00000489821.1:n.-207-19252_-207-19251...
ENST00000636384.2:c.-51-24395_-51-24394del	ENSP00000490765.1:n.-51-24395_-51-24394de...
ENST00000636985.2:c.-552-24502_-552-24501del	ENSP00000490849.1:n.-552-24502_-552-24501...
ENST00000637266.2:c.-51-24395_-51-24394del	ENSP00000490866.1:n.-51-24395_-51-24394de...
ENST00000637367.1:c.-51-24395_-51-24394del	ENSP00000490592.1:n.-51-24395_-51-24394de...
ENST00000638151.1:n.141-24502_141-24501del
ENST00000640791.1:n.5209_5210del
ENST00000375437.6:c.-51-24395_-51-24394del	ENSP00000364586.2:n.-51-24395_-51-24394de...
ENST00000424833.5:c.-51-24395_-51-24394del	ENSP00000406454.2:n.-51-24395_-51-24394de...
ENST00000631182.2:c.-51-24395_-51-24394del	ENSP00000486885.1:n.-51-24395_-51-24394de...
NM_001040142.1:c.-51-24395_-51-24394del	NP_001035232.1:n.-51-24395_-51-24394del
XM_005246750.2:c.-51-24395_-51-24394del	XP_005246807.1:n.-51-24395_-51-24394del
XM_005246753.2:c.-51-24395_-51-24394del	XP_005246810.1:n.-51-24395_-51-24394del
XM_005246754.3:c.27-24502_27-24501del	XP_005246811.1:n.27-24502_27-24501del
XM_011511608.1:c.-51-24395_-51-24394del	XP_011509910.1:n.-51-24395_-51-24394del
XM_011511609.1:c.-51-24395_-51-24394del	XP_011509911.1:n.-51-24395_-51-24394del
XM_005246753.3:c.-51-24395_-51-24394del	XP_005246810.1:n.-51-24395_-51-24394del
XM_017004656.1:c.-51-24395_-51-24394del	XP_016860145.1:n.-51-24395_-51-24394del
XM_017004658.1:c.-991-24395_-991-24394del	XP_016860147.1:n.-991-24395_-991-24394del...
XM_024453037.1:c.-712-24395_-712-24394del	XP_024308805.1:n.-712-24395_-712-24394del...
NM_001040142.2:c.-51-24395_-51-24394del MANE Select	NP_001035232.1:n.-51-24395_-51-24394del
NM_001040143.2:c.-51-24395_-51-24394del	NP_001035233.1:n.-51-24395_-51-24394del
NM_001371246.1:c.-51-24395_-51-24394del MANE Plus Clinical	NP_001358175.1:n.-51-24395_-51-24394del
NM_001371247.1:c.-51-24395_-51-24394del	NP_001358176.1:n.-51-24395_-51-24394del