Canonical Allele Identifier: CA422723052

Gene: KCNT2

Linked Data

• MyVariant Identifiers: chr1:g.196398812C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196429682C>A , CM000663.2:g.196429682C>A	GRCh38
NC_000001.10:g.196398812C>A , CM000663.1:g.196398812C>A	GRCh37
NC_000001.9:g.194665435C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000294725.14:c.714G>T MANE Select	ENSP00000294725.8:p.Val238=
ENST00000647658.1:c.714G>T	ENSP00000496885.1:p.Val238=
ENST00000294725.13:c.714G>T	ENSP00000294725.8:p.Val238=
ENST00000367433.9:c.714G>T	ENSP00000356403.5:p.Val238=
ENST00000451324.6:c.19-31011G>T	ENSP00000405474.2:n.19-31011G>T
ENST00000498426.5:n.171G>T
ENST00000609185.5:c.714G>T	ENSP00000476657.1:p.Val238=
ENST00000610076.1:n.890G>T
NM_001287819.1:c.714G>T	NP_001274748.1:p.Val238=
NM_001287820.1:c.714G>T	NP_001274749.1:p.Val238=
NM_198503.3:c.714G>T	NP_940905.2:p.Val238=
XM_006711294.1:c.714G>T	XP_006711357.1:p.Val238=
XM_006711295.1:c.714G>T	XP_006711358.1:p.Val238=
XM_011509482.1:c.639G>T	XP_011507784.1:p.Val213=
XM_011509483.1:c.714G>T	XP_011507785.1:p.Val238=
XR_921773.1:n.965G>T
XR_921774.1:n.965G>T
XR_921775.1:n.965G>T
NM_001287819.2:c.714G>T	NP_001274748.1:p.Val238=
NM_001287820.2:c.714G>T	NP_001274749.1:p.Val238=
NM_198503.4:c.714G>T	NP_940905.2:p.Val238=
NR_146057.1:n.981G>T
NR_146058.1:n.981G>T
XM_006711294.3:c.714G>T	XP_006711357.1:p.Val238=
XM_006711295.3:c.714G>T	XP_006711358.1:p.Val238=
XM_011509483.3:c.714G>T	XP_011507785.1:p.Val238=
XM_017001179.2:c.714G>T	XP_016856668.1:p.Val238=
XM_017001180.2:c.714G>T	XP_016856669.1:p.Val238=
XM_017001185.2:c.639G>T	XP_016856674.1:p.Val213=
XM_024446697.1:c.-615G>T	XP_024302465.1:n.-615G>T
XR_001737149.2:n.965G>T
XR_001737151.2:n.965G>T
XR_921774.3:n.965G>T
NM_001287819.3:c.714G>T	NP_001274748.1:p.Val238=
NM_001287820.3:c.714G>T	NP_001274749.1:p.Val238=
NM_198503.5:c.714G>T MANE Select	NP_940905.2:p.Val238=
NR_146057.2:n.845G>T
NR_146058.2:n.845G>T