Canonical Allele Identifier: CA16616840
Gene: KCNT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 236299
dbSNP Id: rs1060499537

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196429676A>T , CM000663.2:g.196429676A>T GRCh38
NC_000001.10:g.196398806A>T , CM000663.1:g.196398806A>T GRCh37
NC_000001.9:g.194665429A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000294725.14:c.720T>A MANE Select ENSP00000294725.8:p.Phe240Leu
ENST00000647658.1:c.720T>A ENSP00000496885.1:p.Phe240Leu
ENST00000294725.13:c.720T>A ENSP00000294725.8:p.Phe240Leu
ENST00000367433.9:c.720T>A ENSP00000356403.5:p.Phe240Leu
ENST00000451324.6:c.19-31005T>A ENSP00000405474.2:n.19-31005T>A
ENST00000498426.5:n.177T>A
ENST00000609185.5:c.720T>A ENSP00000476657.1:p.Phe240Leu
ENST00000610076.1:n.896T>A
NM_001287819.1:c.720T>A NP_001274748.1:p.Phe240Leu
NM_001287820.1:c.720T>A NP_001274749.1:p.Phe240Leu
NM_198503.3:c.720T>A NP_940905.2:p.Phe240Leu
XM_006711294.1:c.720T>A XP_006711357.1:p.Phe240Leu
XM_006711295.1:c.720T>A XP_006711358.1:p.Phe240Leu
XM_011509482.1:c.645T>A XP_011507784.1:p.Phe215Leu
XM_011509483.1:c.720T>A XP_011507785.1:p.Phe240Leu
XR_921773.1:n.971T>A
XR_921774.1:n.971T>A
XR_921775.1:n.971T>A
NM_001287819.2:c.720T>A NP_001274748.1:p.Phe240Leu
NM_001287820.2:c.720T>A NP_001274749.1:p.Phe240Leu
NM_198503.4:c.720T>A NP_940905.2:p.Phe240Leu
NR_146057.1:n.987T>A
NR_146058.1:n.987T>A
XM_006711294.3:c.720T>A XP_006711357.1:p.Phe240Leu
XM_006711295.3:c.720T>A XP_006711358.1:p.Phe240Leu
XM_011509483.3:c.720T>A XP_011507785.1:p.Phe240Leu
XM_017001179.2:c.720T>A XP_016856668.1:p.Phe240Leu
XM_017001180.2:c.720T>A XP_016856669.1:p.Phe240Leu
XM_017001185.2:c.645T>A XP_016856674.1:p.Phe215Leu
XM_024446697.1:c.-609T>A XP_024302465.1:n.-609T>A
XR_001737149.2:n.971T>A
XR_001737151.2:n.971T>A
XR_921774.3:n.971T>A
NM_001287819.3:c.720T>A NP_001274748.1:p.Phe240Leu
NM_001287820.3:c.720T>A NP_001274749.1:p.Phe240Leu
NM_198503.5:c.720T>A MANE Select NP_940905.2:p.Phe240Leu
NR_146057.2:n.851T>A
NR_146058.2:n.851T>A