Canonical Allele Identifier: CA2374774303

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406918C= , CM000682.2:g.63406918C=	GRCh38
NC_000020.10:g.62038271C= , CM000682.1:g.62038271C=	GRCh37
NC_000020.9:g.61508715C=	NCBI36
NG_009004.1:g.70723G=
NG_009004.2:g.70723G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2399G=	ENSP00000516702.1:p.Arg800=
ENST00000359125.7:c.2345G= MANE Select	ENSP00000352035.2:p.Arg782=
ENST00000637193.1:c.1742G=	ENSP00000490734.1:p.Arg581=
ENST00000344462.8:c.2252G=	ENSP00000339611.4:p.Arg751=
ENST00000357249.6:c.1913G=	ENSP00000349789.3:p.Arg638=
ENST00000359125.6:c.2345G=	ENSP00000352035.2:p.Arg782=
ENST00000360480.7:c.2261G=	ENSP00000353668.3:p.Arg754=
ENST00000370224.5:c.2241+128G=	ENSP00000359244.2:n.2241+128G=
ENST00000625514.2:c.2205+128G=	ENSP00000486040.1:n.2205+128G=
ENST00000626839.2:c.2291G=	ENSP00000486706.1:p.Arg764=
ENST00000629241.2:c.2133+128G=	ENSP00000487142.1:n.2133+128G=
ENST00000629676.2:c.1680-6075G=	ENSP00000486194.1:n.1680-6075G=
NM_004518.4:c.2261G=	NP_004509.2:p.Arg754=
NM_172106.1:c.2291G=	NP_742104.1:p.Arg764=
NM_172107.2:c.2345G=	NP_742105.1:p.Arg782=
NM_172108.3:c.2252G=	NP_742106.1:p.Arg751=
XM_006723787.1:c.2387G=	XP_006723850.1:p.Arg796=
XM_011528807.1:c.2453G=	XP_011527109.1:p.Arg818=
XM_011528808.1:c.2450G=	XP_011527110.1:p.Arg817=
XM_011528809.1:c.2423G=	XP_011527111.1:p.Arg808=
XM_011528810.1:c.2399G=	XP_011527112.1:p.Arg800=
XM_011528811.1:c.2369G=	XP_011527113.1:p.Arg790=
XM_011528812.1:c.2342G=	XP_011527114.1:p.Arg781=
XM_011528813.1:c.2327G=	XP_011527115.1:p.Arg776=
XM_011528814.1:c.1934G=	XP_011527116.1:p.Arg645=
NM_004518.5:c.2261G=	NP_004509.2:p.Arg754=
NM_172106.2:c.2291G=	NP_742104.1:p.Arg764=
NM_172107.3:c.2345G=	NP_742105.1:p.Arg782=
NM_172108.4:c.2252G=	NP_742106.1:p.Arg751=
XM_011528810.2:c.2399G=	XP_011527112.1:p.Arg800=
XM_011528811.2:c.2369G=	XP_011527113.1:p.Arg790=
XM_017027841.2:c.2396G=	XP_016883330.1:p.Arg799=
XM_017027842.2:c.2333G=	XP_016883331.1:p.Arg778=
XM_017027843.1:c.2330G=	XP_016883332.1:p.Arg777=
XM_017027844.2:c.2288G=	XP_016883333.1:p.Arg763=
XM_017027845.1:c.1361G=	XP_016883334.1:p.Arg454=
NM_004518.6:c.2261G=	NP_004509.2:p.Arg754=
NM_172106.3:c.2291G=	NP_742104.1:p.Arg764=
NM_172107.4:c.2345G= MANE Select	NP_742105.1:p.Arg782=
NM_172108.5:c.2252G=	NP_742106.1:p.Arg751=
NM_001382235.1:c.2399G=	NP_001369164.1:p.Arg800=