Canonical Allele Identifier: CA2374774304

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406919G= , CM000682.2:g.63406919G=	GRCh38
NC_000020.10:g.62038272G= , CM000682.1:g.62038272G=	GRCh37
NC_000020.9:g.61508716G=	NCBI36
NG_009004.1:g.70722C=
NG_009004.2:g.70722C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2398C=	ENSP00000516702.1:p.Arg800=
ENST00000359125.7:c.2344C= MANE Select	ENSP00000352035.2:p.Arg782=
ENST00000637193.1:c.1741C=	ENSP00000490734.1:p.Arg581=
ENST00000344462.8:c.2251C=	ENSP00000339611.4:p.Arg751=
ENST00000357249.6:c.1912C=	ENSP00000349789.3:p.Arg638=
ENST00000359125.6:c.2344C=	ENSP00000352035.2:p.Arg782=
ENST00000360480.7:c.2260C=	ENSP00000353668.3:p.Arg754=
ENST00000370224.5:c.2241+127C=	ENSP00000359244.2:n.2241+127C=
ENST00000625514.2:c.2205+127C=	ENSP00000486040.1:n.2205+127C=
ENST00000626839.2:c.2290C=	ENSP00000486706.1:p.Arg764=
ENST00000629241.2:c.2133+127C=	ENSP00000487142.1:n.2133+127C=
ENST00000629676.2:c.1680-6076C=	ENSP00000486194.1:n.1680-6076C=
NM_004518.4:c.2260C=	NP_004509.2:p.Arg754=
NM_172106.1:c.2290C=	NP_742104.1:p.Arg764=
NM_172107.2:c.2344C=	NP_742105.1:p.Arg782=
NM_172108.3:c.2251C=	NP_742106.1:p.Arg751=
XM_006723787.1:c.2386C=	XP_006723850.1:p.Arg796=
XM_011528807.1:c.2452C=	XP_011527109.1:p.Arg818=
XM_011528808.1:c.2449C=	XP_011527110.1:p.Arg817=
XM_011528809.1:c.2422C=	XP_011527111.1:p.Arg808=
XM_011528810.1:c.2398C=	XP_011527112.1:p.Arg800=
XM_011528811.1:c.2368C=	XP_011527113.1:p.Arg790=
XM_011528812.1:c.2341C=	XP_011527114.1:p.Arg781=
XM_011528813.1:c.2326C=	XP_011527115.1:p.Arg776=
XM_011528814.1:c.1933C=	XP_011527116.1:p.Arg645=
NM_004518.5:c.2260C=	NP_004509.2:p.Arg754=
NM_172106.2:c.2290C=	NP_742104.1:p.Arg764=
NM_172107.3:c.2344C=	NP_742105.1:p.Arg782=
NM_172108.4:c.2251C=	NP_742106.1:p.Arg751=
XM_011528810.2:c.2398C=	XP_011527112.1:p.Arg800=
XM_011528811.2:c.2368C=	XP_011527113.1:p.Arg790=
XM_017027841.2:c.2395C=	XP_016883330.1:p.Arg799=
XM_017027842.2:c.2332C=	XP_016883331.1:p.Arg778=
XM_017027843.1:c.2329C=	XP_016883332.1:p.Arg777=
XM_017027844.2:c.2287C=	XP_016883333.1:p.Arg763=
XM_017027845.1:c.1360C=	XP_016883334.1:p.Arg454=
NM_004518.6:c.2260C=	NP_004509.2:p.Arg754=
NM_172106.3:c.2290C=	NP_742104.1:p.Arg764=
NM_172107.4:c.2344C= MANE Select	NP_742105.1:p.Arg782=
NM_172108.5:c.2251C=	NP_742106.1:p.Arg751=
NM_001382235.1:c.2398C=	NP_001369164.1:p.Arg800=