Canonical Allele Identifier: CA2374774256

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406812G= , CM000682.2:g.63406812G=	GRCh38
NC_000020.10:g.62038165G= , CM000682.1:g.62038165G=	GRCh37
NC_000020.9:g.61508609G=	NCBI36
NG_009004.1:g.70829C=
NG_009004.2:g.70829C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2505C=	ENSP00000516702.1:p.Leu835=
ENST00000359125.7:c.2451C= MANE Select	ENSP00000352035.2:p.Leu817=
ENST00000637193.1:c.1848C=	ENSP00000490734.1:p.Leu616=
ENST00000344462.8:c.2358C=	ENSP00000339611.4:p.Leu786=
ENST00000357249.6:c.2019C=	ENSP00000349789.3:p.Leu673=
ENST00000359125.6:c.2451C=	ENSP00000352035.2:p.Leu817=
ENST00000360480.7:c.2367C=	ENSP00000353668.3:p.Leu789=
ENST00000370224.5:c.2241+234C=	ENSP00000359244.2:n.2241+234C=
ENST00000625514.2:c.2205+234C=	ENSP00000486040.1:n.2205+234C=
ENST00000626839.2:c.2397C=	ENSP00000486706.1:p.Leu799=
ENST00000629241.2:c.2133+234C=	ENSP00000487142.1:n.2133+234C=
ENST00000629676.2:c.1680-5969C=	ENSP00000486194.1:n.1680-5969C=
NM_004518.4:c.2367C=	NP_004509.2:p.Leu789=
NM_172106.1:c.2397C=	NP_742104.1:p.Leu799=
NM_172107.2:c.2451C=	NP_742105.1:p.Leu817=
NM_172108.3:c.2358C=	NP_742106.1:p.Leu786=
XM_006723787.1:c.2493C=	XP_006723850.1:p.Leu831=
XM_011528807.1:c.2559C=	XP_011527109.1:p.Leu853=
XM_011528808.1:c.2556C=	XP_011527110.1:p.Leu852=
XM_011528809.1:c.2529C=	XP_011527111.1:p.Leu843=
XM_011528810.1:c.2505C=	XP_011527112.1:p.Leu835=
XM_011528811.1:c.2475C=	XP_011527113.1:p.Leu825=
XM_011528812.1:c.2448C=	XP_011527114.1:p.Leu816=
XM_011528813.1:c.2433C=	XP_011527115.1:p.Leu811=
XM_011528814.1:c.2040C=	XP_011527116.1:p.Leu680=
NM_004518.5:c.2367C=	NP_004509.2:p.Leu789=
NM_172106.2:c.2397C=	NP_742104.1:p.Leu799=
NM_172107.3:c.2451C=	NP_742105.1:p.Leu817=
NM_172108.4:c.2358C=	NP_742106.1:p.Leu786=
XM_011528810.2:c.2505C=	XP_011527112.1:p.Leu835=
XM_011528811.2:c.2475C=	XP_011527113.1:p.Leu825=
XM_017027841.2:c.2502C=	XP_016883330.1:p.Leu834=
XM_017027842.2:c.2439C=	XP_016883331.1:p.Leu813=
XM_017027843.1:c.2436C=	XP_016883332.1:p.Leu812=
XM_017027844.2:c.2394C=	XP_016883333.1:p.Leu798=
XM_017027845.1:c.1467C=	XP_016883334.1:p.Leu489=
NM_004518.6:c.2367C=	NP_004509.2:p.Leu789=
NM_172106.3:c.2397C=	NP_742104.1:p.Leu799=
NM_172107.4:c.2451C= MANE Select	NP_742105.1:p.Leu817=
NM_172108.5:c.2358C=	NP_742106.1:p.Leu786=
NM_001382235.1:c.2505C=	NP_001369164.1:p.Leu835=