Canonical Allele Identifier: CA2695196972

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 2628441
• ClinVar RCV Id: RCV003985585

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165309357_165309358del , CM000664.2:g.165309357_165309358del	GRCh38
NC_000002.11:g.166165867_166165868del , CM000664.1:g.166165867_166165868del	GRCh37
NC_000002.10:g.165874113_165874114del	NCBI36
NG_008143.1:g.74956_74957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.697+101_697+102del MANE Plus Clinical	ENSP00000486885.1:n.697+101_697+102del
ENST00000375437.7:c.611_612del MANE Select	ENSP00000364586.2:p.Val204AspfsTer?
ENST00000635945.1:n.974_975del
ENST00000636071.2:c.697+101_697+102del	ENSP00000490107.1:n.697+101_697+102del
ENST00000636135.1:c.482_483del	ENSP00000489821.1:p.Val161AspfsTer?
ENST00000636384.2:c.611_612del	ENSP00000490765.1:p.Val204AspfsTer?
ENST00000636662.2:c.*1134_*1135del	ENSP00000489873.1:n.*1134_*1135del
ENST00000636769.1:c.611_612del	ENSP00000490800.1:p.Val204AspfsTer?
ENST00000636985.2:c.215_216del	ENSP00000490849.1:p.Val72AspfsTer?
ENST00000637266.2:c.611_612del	ENSP00000490866.1:p.Val204AspfsTer?
ENST00000637367.1:c.*544_*545del	ENSP00000490592.1:n.*544_*545del
ENST00000638151.1:n.695_696del
ENST00000283256.10:c.611_612del	ENSP00000283256.6:p.Val204AspfsTer?
ENST00000375427.4:c.697+101_697+102del	ENSP00000364576.2:n.697+101_697+102del
ENST00000375437.6:c.611_612del	ENSP00000364586.2:p.Val204AspfsTer?
ENST00000424833.5:c.611_612del	ENSP00000406454.2:p.Val204AspfsTer?
ENST00000480032.4:n.754_755del
ENST00000486878.2:c.152_153del	ENSP00000487466.1:p.Val51AspfsTer?
ENST00000631182.2:c.697+101_697+102del	ENSP00000486885.1:n.697+101_697+102del
NM_001040142.1:c.611_612del	NP_001035232.1:p.Val204AspfsTer?
NM_001040143.1:c.697+101_697+102del	NP_001035233.1:n.697+101_697+102del
NM_021007.2:c.611_612del	NP_066287.2:p.Val204AspfsTer?
XM_005246750.2:c.611_612del	XP_005246807.1:p.Val204AspfsTer?
XM_005246753.2:c.697+101_697+102del	XP_005246810.1:n.697+101_697+102del
XM_005246754.3:c.581_582del	XP_005246811.1:p.Val194AspfsTer?
XM_005246755.3:c.-57+563_-57+564del	XP_005246812.1:n.-57+563_-57+564del
XM_011511608.1:c.611_612del	XP_011509910.1:p.Val204AspfsTer?
XM_011511609.1:c.611_612del	XP_011509911.1:p.Val204AspfsTer?
XM_005246753.3:c.697+101_697+102del	XP_005246810.1:n.697+101_697+102del
XM_017004656.1:c.611_612del	XP_016860145.1:p.Val204AspfsTer?
XM_017004657.1:c.697+101_697+102del	XP_016860146.1:n.697+101_697+102del
XM_017004658.1:c.-143_-142del	XP_016860147.1:n.-143_-142del
XM_024453037.1:c.-57+563_-57+564del	XP_024308805.1:n.-57+563_-57+564del
NM_001040142.2:c.611_612del MANE Select	NP_001035232.1:p.Val204AspfsTer?
NM_001040143.2:c.697+101_697+102del	NP_001035233.1:n.697+101_697+102del
NM_001371246.1:c.697+101_697+102del MANE Plus Clinical	NP_001358175.1:n.697+101_697+102del
NM_001371247.1:c.611_612del	NP_001358176.1:p.Val204AspfsTer?
NM_021007.3:c.611_612del	NP_066287.2:p.Val204AspfsTer?