Canonical Allele Identifier: CA511339429

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407229-C-T
• MyVariant Identifiers: chr20:g.62038582C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407229C>T , CM000682.2:g.63407229C>T	GRCh38
NC_000020.10:g.62038582C>T , CM000682.1:g.62038582C>T	GRCh37
NC_000020.9:g.61509026C>T	NCBI36
NG_009004.1:g.70412G>A
NG_009004.2:g.70412G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2088G>A	ENSP00000516702.1:p.Glu696=
ENST00000359125.7:c.2034G>A MANE Select	ENSP00000352035.2:p.Glu678=
ENST00000637193.1:c.1431G>A	ENSP00000490734.1:p.Glu477=
ENST00000344462.8:c.1941G>A	ENSP00000339611.4:p.Glu647=
ENST00000357249.6:c.1602G>A	ENSP00000349789.3:p.Glu534=
ENST00000359125.6:c.2034G>A	ENSP00000352035.2:p.Glu678=
ENST00000360480.7:c.1950G>A	ENSP00000353668.3:p.Glu650=
ENST00000370224.5:c.2058G>A	ENSP00000359244.2:p.Glu686=
ENST00000625514.2:c.2022G>A	ENSP00000486040.1:p.Glu674=
ENST00000626839.2:c.1980G>A	ENSP00000486706.1:p.Glu660=
ENST00000629241.2:c.1950G>A	ENSP00000487142.1:p.Glu650=
ENST00000629676.2:c.1679+6221G>A	ENSP00000486194.1:n.1679+6221G>A
NM_004518.4:c.1950G>A	NP_004509.2:p.Glu650=
NM_172106.1:c.1980G>A	NP_742104.1:p.Glu660=
NM_172107.2:c.2034G>A	NP_742105.1:p.Glu678=
NM_172108.3:c.1941G>A	NP_742106.1:p.Glu647=
XM_006723787.1:c.2076G>A	XP_006723850.1:p.Glu692=
XM_011528807.1:c.2142G>A	XP_011527109.1:p.Glu714=
XM_011528808.1:c.2139G>A	XP_011527110.1:p.Glu713=
XM_011528809.1:c.2112G>A	XP_011527111.1:p.Glu704=
XM_011528810.1:c.2088G>A	XP_011527112.1:p.Glu696=
XM_011528811.1:c.2058G>A	XP_011527113.1:p.Glu686=
XM_011528812.1:c.2031G>A	XP_011527114.1:p.Glu677=
XM_011528813.1:c.2016G>A	XP_011527115.1:p.Glu672=
XM_011528814.1:c.1623G>A	XP_011527116.1:p.Glu541=
NM_004518.5:c.1950G>A	NP_004509.2:p.Glu650=
NM_172106.2:c.1980G>A	NP_742104.1:p.Glu660=
NM_172107.3:c.2034G>A	NP_742105.1:p.Glu678=
NM_172108.4:c.1941G>A	NP_742106.1:p.Glu647=
XM_011528810.2:c.2088G>A	XP_011527112.1:p.Glu696=
XM_011528811.2:c.2058G>A	XP_011527113.1:p.Glu686=
XM_017027841.2:c.2085G>A	XP_016883330.1:p.Glu695=
XM_017027842.2:c.2022G>A	XP_016883331.1:p.Glu674=
XM_017027843.1:c.2019G>A	XP_016883332.1:p.Glu673=
XM_017027844.2:c.1977G>A	XP_016883333.1:p.Glu659=
XM_017027845.1:c.1050G>A	XP_016883334.1:p.Glu350=
NM_004518.6:c.1950G>A	NP_004509.2:p.Glu650=
NM_172106.3:c.1980G>A	NP_742104.1:p.Glu660=
NM_172107.4:c.2034G>A MANE Select	NP_742105.1:p.Glu678=
NM_172108.5:c.1941G>A	NP_742106.1:p.Glu647=
NM_001382235.1:c.2088G>A	NP_001369164.1:p.Glu696=