Canonical Allele Identifier: CA344081054

Gene: KCNT2

Linked Data

• MyVariant Identifiers: chr1:g.196398807A>T (hg19) ; chr1:g.196429677A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196429677A>T , CM000663.2:g.196429677A>T	GRCh38
NC_000001.10:g.196398807A>T , CM000663.1:g.196398807A>T	GRCh37
NC_000001.9:g.194665430A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000294725.14:c.719T>A MANE Select	ENSP00000294725.8:p.Phe240Tyr
ENST00000647658.1:c.719T>A	ENSP00000496885.1:p.Phe240Tyr
ENST00000294725.13:c.719T>A	ENSP00000294725.8:p.Phe240Tyr
ENST00000367433.9:c.719T>A	ENSP00000356403.5:p.Phe240Tyr
ENST00000451324.6:c.19-31006T>A	ENSP00000405474.2:n.19-31006T>A
ENST00000498426.5:n.176T>A
ENST00000609185.5:c.719T>A	ENSP00000476657.1:p.Phe240Tyr
ENST00000610076.1:n.895T>A
NM_001287819.1:c.719T>A	NP_001274748.1:p.Phe240Tyr
NM_001287820.1:c.719T>A	NP_001274749.1:p.Phe240Tyr
NM_198503.3:c.719T>A	NP_940905.2:p.Phe240Tyr
XM_006711294.1:c.719T>A	XP_006711357.1:p.Phe240Tyr
XM_006711295.1:c.719T>A	XP_006711358.1:p.Phe240Tyr
XM_011509482.1:c.644T>A	XP_011507784.1:p.Phe215Tyr
XM_011509483.1:c.719T>A	XP_011507785.1:p.Phe240Tyr
XR_921773.1:n.970T>A
XR_921774.1:n.970T>A
XR_921775.1:n.970T>A
NM_001287819.2:c.719T>A	NP_001274748.1:p.Phe240Tyr
NM_001287820.2:c.719T>A	NP_001274749.1:p.Phe240Tyr
NM_198503.4:c.719T>A	NP_940905.2:p.Phe240Tyr
NR_146057.1:n.986T>A
NR_146058.1:n.986T>A
XM_006711294.3:c.719T>A	XP_006711357.1:p.Phe240Tyr
XM_006711295.3:c.719T>A	XP_006711358.1:p.Phe240Tyr
XM_011509483.3:c.719T>A	XP_011507785.1:p.Phe240Tyr
XM_017001179.2:c.719T>A	XP_016856668.1:p.Phe240Tyr
XM_017001180.2:c.719T>A	XP_016856669.1:p.Phe240Tyr
XM_017001185.2:c.644T>A	XP_016856674.1:p.Phe215Tyr
XM_024446697.1:c.-610T>A	XP_024302465.1:n.-610T>A
XR_001737149.2:n.970T>A
XR_001737151.2:n.970T>A
XR_921774.3:n.970T>A
NM_001287819.3:c.719T>A	NP_001274748.1:p.Phe240Tyr
NM_001287820.3:c.719T>A	NP_001274749.1:p.Phe240Tyr
NM_198503.5:c.719T>A MANE Select	NP_940905.2:p.Phe240Tyr
NR_146057.2:n.850T>A
NR_146058.2:n.850T>A