Canonical Allele Identifier: CA2374774343

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406976T= , CM000682.2:g.63406976T=	GRCh38
NC_000020.10:g.62038329T= , CM000682.1:g.62038329T=	GRCh37
NC_000020.9:g.61508773T=	NCBI36
NG_009004.1:g.70665A=
NG_009004.2:g.70665A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2341A=	ENSP00000516702.1:p.Met781=
ENST00000359125.7:c.2287A= MANE Select	ENSP00000352035.2:p.Met763=
ENST00000637193.1:c.1684A=	ENSP00000490734.1:p.Met562=
ENST00000344462.8:c.2194A=	ENSP00000339611.4:p.Met732=
ENST00000357249.6:c.1855A=	ENSP00000349789.3:p.Met619=
ENST00000359125.6:c.2287A=	ENSP00000352035.2:p.Met763=
ENST00000360480.7:c.2203A=	ENSP00000353668.3:p.Met735=
ENST00000370224.5:c.2241+70A=	ENSP00000359244.2:n.2241+70A=
ENST00000625514.2:c.2205+70A=	ENSP00000486040.1:n.2205+70A=
ENST00000626839.2:c.2233A=	ENSP00000486706.1:p.Met745=
ENST00000629241.2:c.2133+70A=	ENSP00000487142.1:n.2133+70A=
ENST00000629676.2:c.1680-6133A=	ENSP00000486194.1:n.1680-6133A=
NM_004518.4:c.2203A=	NP_004509.2:p.Met735=
NM_172106.1:c.2233A=	NP_742104.1:p.Met745=
NM_172107.2:c.2287A=	NP_742105.1:p.Met763=
NM_172108.3:c.2194A=	NP_742106.1:p.Met732=
XM_006723787.1:c.2329A=	XP_006723850.1:p.Met777=
XM_011528807.1:c.2395A=	XP_011527109.1:p.Met799=
XM_011528808.1:c.2392A=	XP_011527110.1:p.Met798=
XM_011528809.1:c.2365A=	XP_011527111.1:p.Met789=
XM_011528810.1:c.2341A=	XP_011527112.1:p.Met781=
XM_011528811.1:c.2311A=	XP_011527113.1:p.Met771=
XM_011528812.1:c.2284A=	XP_011527114.1:p.Met762=
XM_011528813.1:c.2269A=	XP_011527115.1:p.Met757=
XM_011528814.1:c.1876A=	XP_011527116.1:p.Met626=
NM_004518.5:c.2203A=	NP_004509.2:p.Met735=
NM_172106.2:c.2233A=	NP_742104.1:p.Met745=
NM_172107.3:c.2287A=	NP_742105.1:p.Met763=
NM_172108.4:c.2194A=	NP_742106.1:p.Met732=
XM_011528810.2:c.2341A=	XP_011527112.1:p.Met781=
XM_011528811.2:c.2311A=	XP_011527113.1:p.Met771=
XM_017027841.2:c.2338A=	XP_016883330.1:p.Met780=
XM_017027842.2:c.2275A=	XP_016883331.1:p.Met759=
XM_017027843.1:c.2272A=	XP_016883332.1:p.Met758=
XM_017027844.2:c.2230A=	XP_016883333.1:p.Met744=
XM_017027845.1:c.1303A=	XP_016883334.1:p.Met435=
NM_004518.6:c.2203A=	NP_004509.2:p.Met735=
NM_172106.3:c.2233A=	NP_742104.1:p.Met745=
NM_172107.4:c.2287A= MANE Select	NP_742105.1:p.Met763=
NM_172108.5:c.2194A=	NP_742106.1:p.Met732=
NM_001382235.1:c.2341A=	NP_001369164.1:p.Met781=