Canonical Allele Identifier: CA16617265
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 419405
ClinVar RCV Id: RCV000480984 RCV001265410
dbSNP Id: rs1064793850
MyVariant Identifiers: chr2:g.166201124_166201133del (hg19) chr2:g.165344614_165344623del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165344614_165344623del , CM000664.2:g.165344614_165344623del GRCh38
NC_000002.11:g.166201124_166201133del , CM000664.1:g.166201124_166201133del GRCh37
NC_000002.10:g.165909370_165909379del NCBI36
NG_008143.1:g.110213_110222del

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.2622_2631del MANE Plus Clinical ENSP00000486885.1:p.Ile874MetfsTer5
ENST00000375437.7:c.2622_2631del MANE Select ENSP00000364586.2:p.Ile874MetfsTer5
ENST00000636071.2:c.2622_2631del ENSP00000490107.1:p.Ile874MetfsTer5
ENST00000636135.1:c.*941_*950del ENSP00000489821.1:n.*941_*950del
ENST00000636384.2:c.*609_*618del ENSP00000490765.1:n.*609_*618del
ENST00000636662.2:c.*3145_*3154del ENSP00000489873.1:n.*3145_*3154del
ENST00000636769.1:c.*564_*573del ENSP00000490800.1:n.*564_*573del
ENST00000636985.2:c.2226_2235del ENSP00000490849.1:p.Ile742MetfsTer5
ENST00000637266.2:c.2622_2631del ENSP00000490866.1:p.Ile874MetfsTer5
ENST00000673831.1:c.60_69del ENSP00000501305.1:p.Ile20MetfsTer5
ENST00000673883.1:c.60_69del ENSP00000501309.1:p.Ile20MetfsTer5
ENST00000674133.1:c.473_482del
ENST00000283256.10:c.2622_2631del ENSP00000283256.6:p.Ile874MetfsTer5
ENST00000375427.4:c.2622_2631del ENSP00000364576.2:p.Ile874MetfsTer5
ENST00000375437.6:c.2622_2631del ENSP00000364586.2:p.Ile874MetfsTer5
ENST00000480032.4:n.2765_2774del
ENST00000631182.2:c.2622_2631del ENSP00000486885.1:p.Ile874MetfsTer5
NM_001040142.1:c.2622_2631del NP_001035232.1:p.Ile874MetfsTer5
NM_001040143.1:c.2622_2631del NP_001035233.1:p.Ile874MetfsTer5
NM_021007.2:c.2622_2631del NP_066287.2:p.Ile874MetfsTer5
XM_005246750.2:c.2622_2631del XP_005246807.1:p.Ile874MetfsTer5
XM_005246753.2:c.2622_2631del XP_005246810.1:p.Ile874MetfsTer5
XM_005246754.3:c.2592_2601del XP_005246811.1:p.Ile864MetfsTer5
XM_005246755.3:c.1869_1878del XP_005246812.1:p.Ile623MetfsTer5
XM_011511608.1:c.2622_2631del XP_011509910.1:p.Ile874MetfsTer5
XM_011511609.1:c.2622_2631del XP_011509911.1:p.Ile874MetfsTer5
XM_005246753.3:c.2622_2631del XP_005246810.1:p.Ile874MetfsTer5
XM_017004656.1:c.2622_2631del XP_016860145.1:p.Ile874MetfsTer5
XM_017004657.1:c.2622_2631del XP_016860146.1:p.Ile874MetfsTer5
XM_017004658.1:c.1869_1878del XP_016860147.1:p.Ile623MetfsTer5
XM_017004659.1:c.420_429del XP_016860148.1:p.Ile140MetfsTer5
XM_024453037.1:c.1869_1878del XP_024308805.1:p.Ile623MetfsTer5
NM_001040142.2:c.2622_2631del MANE Select NP_001035232.1:p.Ile874MetfsTer5
NM_001040143.2:c.2622_2631del NP_001035233.1:p.Ile874MetfsTer5
NM_001371246.1:c.2622_2631del MANE Plus Clinical NP_001358175.1:p.Ile874MetfsTer5
NM_001371247.1:c.2622_2631del NP_001358176.1:p.Ile874MetfsTer5
NM_021007.3:c.2622_2631del NP_066287.2:p.Ile874MetfsTer5
Search 100 bp 5'
Search 100 bp 3'