Canonical Allele Identifier: CA511339497

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407076-G-A
• MyVariant Identifiers: chr20:g.62038429G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407076G>A , CM000682.2:g.63407076G>A	GRCh38
NC_000020.10:g.62038429G>A , CM000682.1:g.62038429G>A	GRCh37
NC_000020.9:g.61508873G>A	NCBI36
NG_009004.1:g.70565C>T
NG_009004.2:g.70565C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2241C>T	ENSP00000516702.1:p.Gly747=
ENST00000359125.7:c.2187C>T MANE Select	ENSP00000352035.2:p.Gly729=
ENST00000637193.1:c.1584C>T	ENSP00000490734.1:p.Gly528=
ENST00000344462.8:c.2094C>T	ENSP00000339611.4:p.Gly698=
ENST00000357249.6:c.1755C>T	ENSP00000349789.3:p.Gly585=
ENST00000359125.6:c.2187C>T	ENSP00000352035.2:p.Gly729=
ENST00000360480.7:c.2103C>T	ENSP00000353668.3:p.Gly701=
ENST00000370224.5:c.2211C>T	ENSP00000359244.2:p.Gly737=
ENST00000625514.2:c.2175C>T	ENSP00000486040.1:p.Gly725=
ENST00000626839.2:c.2133C>T	ENSP00000486706.1:p.Gly711=
ENST00000629241.2:c.2103C>T	ENSP00000487142.1:p.Gly701=
ENST00000629676.2:c.1680-6233C>T	ENSP00000486194.1:n.1680-6233C>T
NM_004518.4:c.2103C>T	NP_004509.2:p.Gly701=
NM_172106.1:c.2133C>T	NP_742104.1:p.Gly711=
NM_172107.2:c.2187C>T	NP_742105.1:p.Gly729=
NM_172108.3:c.2094C>T	NP_742106.1:p.Gly698=
XM_006723787.1:c.2229C>T	XP_006723850.1:p.Gly743=
XM_011528807.1:c.2295C>T	XP_011527109.1:p.Gly765=
XM_011528808.1:c.2292C>T	XP_011527110.1:p.Gly764=
XM_011528809.1:c.2265C>T	XP_011527111.1:p.Gly755=
XM_011528810.1:c.2241C>T	XP_011527112.1:p.Gly747=
XM_011528811.1:c.2211C>T	XP_011527113.1:p.Gly737=
XM_011528812.1:c.2184C>T	XP_011527114.1:p.Gly728=
XM_011528813.1:c.2169C>T	XP_011527115.1:p.Gly723=
XM_011528814.1:c.1776C>T	XP_011527116.1:p.Gly592=
NM_004518.5:c.2103C>T	NP_004509.2:p.Gly701=
NM_172106.2:c.2133C>T	NP_742104.1:p.Gly711=
NM_172107.3:c.2187C>T	NP_742105.1:p.Gly729=
NM_172108.4:c.2094C>T	NP_742106.1:p.Gly698=
XM_011528810.2:c.2241C>T	XP_011527112.1:p.Gly747=
XM_011528811.2:c.2211C>T	XP_011527113.1:p.Gly737=
XM_017027841.2:c.2238C>T	XP_016883330.1:p.Gly746=
XM_017027842.2:c.2175C>T	XP_016883331.1:p.Gly725=
XM_017027843.1:c.2172C>T	XP_016883332.1:p.Gly724=
XM_017027844.2:c.2130C>T	XP_016883333.1:p.Gly710=
XM_017027845.1:c.1203C>T	XP_016883334.1:p.Gly401=
NM_004518.6:c.2103C>T	NP_004509.2:p.Gly701=
NM_172106.3:c.2133C>T	NP_742104.1:p.Gly711=
NM_172107.4:c.2187C>T MANE Select	NP_742105.1:p.Gly729=
NM_172108.5:c.2094C>T	NP_742106.1:p.Gly698=
NM_001382235.1:c.2241C>T	NP_001369164.1:p.Gly747=