Canonical Allele Identifier: CA16616953
Gene: KCNA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423204
ClinVar RCV Id: RCV000478745 RCV001233488
dbSNP Id: rs1064796294
MyVariant Identifiers: chr1:g.111146139_111146140del (hg19) chr1:g.110603517_110603518del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110603519_110603520del , CM000663.2:g.110603519_110603520del GRCh38
NC_000001.10:g.111146141_111146142del , CM000663.1:g.111146141_111146142del GRCh37
NC_000001.9:g.110947664_110947665del NCBI36
NG_027997.2:g.32957_32958del

Transcript Alleles

HGVS Amino-acid change
ENST00000316361.10:c.1265_1266del MANE Select ENSP00000314520.4:p.Glu422GlyfsTer21
ENST00000485317.6:c.1265_1266del ENSP00000433109.1:p.Glu422GlyfsTer21
ENST00000525120.2:n.361+1873_361+1874del
ENST00000638477.2:c.128+375_128+376del ENSP00000491354.1:n.128+375_128+376del
ENST00000638532.1:c.1265_1266del ENSP00000491613.1:p.Glu422GlyfsTer21
ENST00000638616.2:c.1265_1266del ENSP00000491977.1:p.Glu422GlyfsTer21
ENST00000639048.2:c.503_504del ENSP00000491627.1:p.Glu168GlyfsTer21
ENST00000639227.1:n.658+375_658+376del
ENST00000639233.2:c.683_684del ENSP00000492716.1:p.Glu228GlyfsTer21
ENST00000640450.1:n.998+375_998+376del
ENST00000640680.1:n.459+1873_459+1874del
ENST00000640774.2:c.132+371_132+372del ENSP00000492008.1:n.132+371_132+372del
ENST00000640956.1:c.899_900del ENSP00000491647.1:p.Glu300GlyfsTer21
ENST00000675391.1:c.1265_1266del ENSP00000502642.1:p.Glu422GlyfsTer21
ENST00000316361.8:c.1265_1266del ENSP00000314520.4:p.Glu422GlyfsTer21
ENST00000369770.7:c.894+371_894+372del ENSP00000358785.3:n.894+371_894+372del
ENST00000485317.5:c.1265_1266del ENSP00000433109.1:p.Glu422GlyfsTer21
ENST00000633222.1:c.1265_1266del ENSP00000487785.1:p.Glu422GlyfsTer21
NM_001204269.1:c.894+371_894+372del NP_001191198.1:n.894+371_894+372del
NM_004974.3:c.1265_1266del NP_004965.1:p.Glu422GlyfsTer21
XM_011541396.1:c.1265_1266del XP_011539698.1:p.Glu422GlyfsTer21
XM_011541397.1:c.1265_1266del XP_011539699.1:p.Glu422GlyfsTer21
XM_011541398.1:c.1265_1266del XP_011539700.1:p.Glu422GlyfsTer21
XM_011541399.1:c.1265_1266del XP_011539701.1:p.Glu422GlyfsTer21
XM_011541400.1:c.1265_1266del XP_011539702.1:p.Glu422GlyfsTer21
XM_011541396.2:c.1265_1266del XP_011539698.1:p.Glu422GlyfsTer21
XM_011541397.2:c.1265_1266del XP_011539699.1:p.Glu422GlyfsTer21
XM_011541398.2:c.1265_1266del XP_011539700.1:p.Glu422GlyfsTer21
XM_011541399.2:c.1265_1266del XP_011539701.1:p.Glu422GlyfsTer21
XM_011541400.2:c.1265_1266del XP_011539702.1:p.Glu422GlyfsTer21
XM_017001213.1:c.1265_1266del XP_016856702.1:p.Glu422GlyfsTer21
NM_004974.4:c.1265_1266del MANE Select NP_004965.1:p.Glu422GlyfsTer21
NM_001204269.2:c.894+371_894+372del NP_001191198.1:n.894+371_894+372del
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