Canonical Allele Identifier: CA422723046

Gene: KCNT2

Linked Data

• gnomAD v4: 1-196429679-C-G
• MyVariant Identifiers: chr1:g.196398809C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196429679C>G , CM000663.2:g.196429679C>G	GRCh38
NC_000001.10:g.196398809C>G , CM000663.1:g.196398809C>G	GRCh37
NC_000001.9:g.194665432C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000294725.14:c.717G>C MANE Select	ENSP00000294725.8:p.Thr239=
ENST00000647658.1:c.717G>C	ENSP00000496885.1:p.Thr239=
ENST00000294725.13:c.717G>C	ENSP00000294725.8:p.Thr239=
ENST00000367433.9:c.717G>C	ENSP00000356403.5:p.Thr239=
ENST00000451324.6:c.19-31008G>C	ENSP00000405474.2:n.19-31008G>C
ENST00000498426.5:n.174G>C
ENST00000609185.5:c.717G>C	ENSP00000476657.1:p.Thr239=
ENST00000610076.1:n.893G>C
NM_001287819.1:c.717G>C	NP_001274748.1:p.Thr239=
NM_001287820.1:c.717G>C	NP_001274749.1:p.Thr239=
NM_198503.3:c.717G>C	NP_940905.2:p.Thr239=
XM_006711294.1:c.717G>C	XP_006711357.1:p.Thr239=
XM_006711295.1:c.717G>C	XP_006711358.1:p.Thr239=
XM_011509482.1:c.642G>C	XP_011507784.1:p.Thr214=
XM_011509483.1:c.717G>C	XP_011507785.1:p.Thr239=
XR_921773.1:n.968G>C
XR_921774.1:n.968G>C
XR_921775.1:n.968G>C
NM_001287819.2:c.717G>C	NP_001274748.1:p.Thr239=
NM_001287820.2:c.717G>C	NP_001274749.1:p.Thr239=
NM_198503.4:c.717G>C	NP_940905.2:p.Thr239=
NR_146057.1:n.984G>C
NR_146058.1:n.984G>C
XM_006711294.3:c.717G>C	XP_006711357.1:p.Thr239=
XM_006711295.3:c.717G>C	XP_006711358.1:p.Thr239=
XM_011509483.3:c.717G>C	XP_011507785.1:p.Thr239=
XM_017001179.2:c.717G>C	XP_016856668.1:p.Thr239=
XM_017001180.2:c.717G>C	XP_016856669.1:p.Thr239=
XM_017001185.2:c.642G>C	XP_016856674.1:p.Thr214=
XM_024446697.1:c.-612G>C	XP_024302465.1:n.-612G>C
XR_001737149.2:n.968G>C
XR_001737151.2:n.968G>C
XR_921774.3:n.968G>C
NM_001287819.3:c.717G>C	NP_001274748.1:p.Thr239=
NM_001287820.3:c.717G>C	NP_001274749.1:p.Thr239=
NM_198503.5:c.717G>C MANE Select	NP_940905.2:p.Thr239=
NR_146057.2:n.848G>C
NR_146058.2:n.848G>C