Canonical Allele Identifier: CA760109146
Gene: SCN2A HGNC NCBI

Linked Data

dbSNP Id: rs1319000633

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165344416_165344417insTAGTCACATGG , CM000664.2:g.165344416_165344417insTAGTCACATGG GRCh38
NC_000002.11:g.166200926_166200927insTAGTCACATGG , CM000664.1:g.166200926_166200927insTAGTCACATGG GRCh37
NC_000002.10:g.165909172_165909173insTAGTCACATGG NCBI36
NG_008143.1:g.110015_110016insTAGTCACATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000631182.3:c.2563-139_2563-138insTAGTCACATGG MANE Plus Clinical ENSP00000486885.1:n.2563-139_2563-138insTAGTCACATGG
ENST00000375437.7:c.2563-139_2563-138insTAGTCACATGG MANE Select ENSP00000364586.2:n.2563-139_2563-138insTAGTCACATGG
ENST00000636071.2:c.2563-139_2563-138insTAGTCACATGG ENSP00000490107.1:n.2563-139_2563-138insTAGTCACATGG
ENST00000636135.1:c.*882-139_*882-138insTAGTCACATGG ENSP00000489821.1:n.*882-139_*882-138insTAGTCACATGG
ENST00000636384.2:c.*550-139_*550-138insTAGTCACATGG ENSP00000490765.1:n.*550-139_*550-138insTAGTCACATGG
ENST00000636662.2:c.*3086-139_*3086-138insTAGTCACATGG ENSP00000489873.1:n.*3086-139_*3086-138insTAGTCACATGG
ENST00000636769.1:c.*505-139_*505-138insTAGTCACATGG ENSP00000490800.1:n.*505-139_*505-138insTAGTCACATGG
ENST00000636985.2:c.2167-139_2167-138insTAGTCACATGG ENSP00000490849.1:n.2167-139_2167-138insTAGTCACATGG
ENST00000637266.2:c.2563-139_2563-138insTAGTCACATGG ENSP00000490866.1:n.2563-139_2563-138insTAGTCACATGG
ENST00000674133.1:c.414-139_414-138insTAGTCACATGG
ENST00000283256.10:c.2563-139_2563-138insTAGTCACATGG ENSP00000283256.6:n.2563-139_2563-138insTAGTCACATGG
ENST00000375427.4:c.2563-139_2563-138insTAGTCACATGG ENSP00000364576.2:n.2563-139_2563-138insTAGTCACATGG
ENST00000375437.6:c.2563-139_2563-138insTAGTCACATGG ENSP00000364586.2:n.2563-139_2563-138insTAGTCACATGG
ENST00000480032.4:n.2706-139_2706-138insTAGTCACATGG
ENST00000631182.2:c.2563-139_2563-138insTAGTCACATGG ENSP00000486885.1:n.2563-139_2563-138insTAGTCACATGG
NM_001040142.1:c.2563-139_2563-138insTAGTCACATGG NP_001035232.1:n.2563-139_2563-138insTAGTCACATGG
NM_001040143.1:c.2563-139_2563-138insTAGTCACATGG NP_001035233.1:n.2563-139_2563-138insTAGTCACATGG
NM_021007.2:c.2563-139_2563-138insTAGTCACATGG NP_066287.2:n.2563-139_2563-138insTAGTCACATGG
XM_005246750.2:c.2563-139_2563-138insTAGTCACATGG XP_005246807.1:n.2563-139_2563-138insTAGTCACATGG
XM_005246753.2:c.2563-139_2563-138insTAGTCACATGG XP_005246810.1:n.2563-139_2563-138insTAGTCACATGG
XM_005246754.3:c.2533-139_2533-138insTAGTCACATGG XP_005246811.1:n.2533-139_2533-138insTAGTCACATGG
XM_005246755.3:c.1810-139_1810-138insTAGTCACATGG XP_005246812.1:n.1810-139_1810-138insTAGTCACATGG
XM_011511608.1:c.2563-139_2563-138insTAGTCACATGG XP_011509910.1:n.2563-139_2563-138insTAGTCACATGG
XM_011511609.1:c.2563-139_2563-138insTAGTCACATGG XP_011509911.1:n.2563-139_2563-138insTAGTCACATGG
XM_005246753.3:c.2563-139_2563-138insTAGTCACATGG XP_005246810.1:n.2563-139_2563-138insTAGTCACATGG
XM_017004656.1:c.2563-139_2563-138insTAGTCACATGG XP_016860145.1:n.2563-139_2563-138insTAGTCACATGG
XM_017004657.1:c.2563-139_2563-138insTAGTCACATGG XP_016860146.1:n.2563-139_2563-138insTAGTCACATGG
XM_017004658.1:c.1810-139_1810-138insTAGTCACATGG XP_016860147.1:n.1810-139_1810-138insTAGTCACATGG
XM_017004659.1:c.361-139_361-138insTAGTCACATGG XP_016860148.1:n.361-139_361-138insTAGTCACATGG
XM_024453037.1:c.1810-139_1810-138insTAGTCACATGG XP_024308805.1:n.1810-139_1810-138insTAGTCACATGG
NM_001040142.2:c.2563-139_2563-138insTAGTCACATGG MANE Select NP_001035232.1:n.2563-139_2563-138insTAGTCACATGG
NM_001040143.2:c.2563-139_2563-138insTAGTCACATGG NP_001035233.1:n.2563-139_2563-138insTAGTCACATGG
NM_001371246.1:c.2563-139_2563-138insTAGTCACATGG MANE Plus Clinical NP_001358175.1:n.2563-139_2563-138insTAGTCACATGG
NM_001371247.1:c.2563-139_2563-138insTAGTCACATGG NP_001358176.1:n.2563-139_2563-138insTAGTCACATGG
NM_021007.3:c.2563-139_2563-138insTAGTCACATGG NP_066287.2:n.2563-139_2563-138insTAGTCACATGG