Canonical Allele Identifier: CA2374774254

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406800G= , CM000682.2:g.63406800G=	GRCh38
NC_000020.10:g.62038153G= , CM000682.1:g.62038153G=	GRCh37
NC_000020.9:g.61508597G=	NCBI36
NG_009004.1:g.70841C=
NG_009004.2:g.70841C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2517C=	ENSP00000516702.1:p.Tyr839=
ENST00000359125.7:c.2463C= MANE Select	ENSP00000352035.2:p.Tyr821=
ENST00000637193.1:c.1860C=	ENSP00000490734.1:p.Tyr620=
ENST00000344462.8:c.2370C=	ENSP00000339611.4:p.Tyr790=
ENST00000357249.6:c.2031C=	ENSP00000349789.3:p.Tyr677=
ENST00000359125.6:c.2463C=	ENSP00000352035.2:p.Tyr821=
ENST00000360480.7:c.2379C=	ENSP00000353668.3:p.Tyr793=
ENST00000370224.5:c.2241+246C=	ENSP00000359244.2:n.2241+246C=
ENST00000625514.2:c.2205+246C=	ENSP00000486040.1:n.2205+246C=
ENST00000626839.2:c.2409C=	ENSP00000486706.1:p.Tyr803=
ENST00000629241.2:c.2133+246C=	ENSP00000487142.1:n.2133+246C=
ENST00000629676.2:c.1680-5957C=	ENSP00000486194.1:n.1680-5957C=
NM_004518.4:c.2379C=	NP_004509.2:p.Tyr793=
NM_172106.1:c.2409C=	NP_742104.1:p.Tyr803=
NM_172107.2:c.2463C=	NP_742105.1:p.Tyr821=
NM_172108.3:c.2370C=	NP_742106.1:p.Tyr790=
XM_006723787.1:c.2505C=	XP_006723850.1:p.Tyr835=
XM_011528807.1:c.2571C=	XP_011527109.1:p.Tyr857=
XM_011528808.1:c.2568C=	XP_011527110.1:p.Tyr856=
XM_011528809.1:c.2541C=	XP_011527111.1:p.Tyr847=
XM_011528810.1:c.2517C=	XP_011527112.1:p.Tyr839=
XM_011528811.1:c.2487C=	XP_011527113.1:p.Tyr829=
XM_011528812.1:c.2460C=	XP_011527114.1:p.Tyr820=
XM_011528813.1:c.2445C=	XP_011527115.1:p.Tyr815=
XM_011528814.1:c.2052C=	XP_011527116.1:p.Tyr684=
NM_004518.5:c.2379C=	NP_004509.2:p.Tyr793=
NM_172106.2:c.2409C=	NP_742104.1:p.Tyr803=
NM_172107.3:c.2463C=	NP_742105.1:p.Tyr821=
NM_172108.4:c.2370C=	NP_742106.1:p.Tyr790=
XM_011528810.2:c.2517C=	XP_011527112.1:p.Tyr839=
XM_011528811.2:c.2487C=	XP_011527113.1:p.Tyr829=
XM_017027841.2:c.2514C=	XP_016883330.1:p.Tyr838=
XM_017027842.2:c.2451C=	XP_016883331.1:p.Tyr817=
XM_017027843.1:c.2448C=	XP_016883332.1:p.Tyr816=
XM_017027844.2:c.2406C=	XP_016883333.1:p.Tyr802=
XM_017027845.1:c.1479C=	XP_016883334.1:p.Tyr493=
NM_004518.6:c.2379C=	NP_004509.2:p.Tyr793=
NM_172106.3:c.2409C=	NP_742104.1:p.Tyr803=
NM_172107.4:c.2463C= MANE Select	NP_742105.1:p.Tyr821=
NM_172108.5:c.2370C=	NP_742106.1:p.Tyr790=
NM_001382235.1:c.2517C=	NP_001369164.1:p.Tyr839=