Canonical Allele Identifier: CA511339590

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038675C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407322C>A , CM000682.2:g.63407322C>A	GRCh38
NC_000020.10:g.62038675C>A , CM000682.1:g.62038675C>A	GRCh37
NC_000020.9:g.61509119C>A	NCBI36
NG_009004.1:g.70319G>T
NG_009004.2:g.70319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1995G>T	ENSP00000516702.1:p.Arg665=
ENST00000359125.7:c.1941G>T MANE Select	ENSP00000352035.2:p.Arg647=
ENST00000637193.1:c.1338G>T	ENSP00000490734.1:p.Arg446=
ENST00000637338.1:n.98G>T
ENST00000344462.8:c.1848G>T	ENSP00000339611.4:p.Arg616=
ENST00000357249.6:c.1509G>T	ENSP00000349789.3:p.Arg503=
ENST00000359125.6:c.1941G>T	ENSP00000352035.2:p.Arg647=
ENST00000360480.7:c.1857G>T	ENSP00000353668.3:p.Arg619=
ENST00000370224.5:c.1965G>T	ENSP00000359244.2:p.Arg655=
ENST00000625514.2:c.1929G>T	ENSP00000486040.1:p.Arg643=
ENST00000626839.2:c.1887G>T	ENSP00000486706.1:p.Arg629=
ENST00000629241.2:c.1857G>T	ENSP00000487142.1:p.Arg619=
ENST00000629676.2:c.1679+6128G>T	ENSP00000486194.1:n.1679+6128G>T
NM_004518.4:c.1857G>T	NP_004509.2:p.Arg619=
NM_172106.1:c.1887G>T	NP_742104.1:p.Arg629=
NM_172107.2:c.1941G>T	NP_742105.1:p.Arg647=
NM_172108.3:c.1848G>T	NP_742106.1:p.Arg616=
XM_006723787.1:c.1983G>T	XP_006723850.1:p.Arg661=
XM_011528807.1:c.2049G>T	XP_011527109.1:p.Arg683=
XM_011528808.1:c.2046G>T	XP_011527110.1:p.Arg682=
XM_011528809.1:c.2019G>T	XP_011527111.1:p.Arg673=
XM_011528810.1:c.1995G>T	XP_011527112.1:p.Arg665=
XM_011528811.1:c.1965G>T	XP_011527113.1:p.Arg655=
XM_011528812.1:c.1938G>T	XP_011527114.1:p.Arg646=
XM_011528813.1:c.1923G>T	XP_011527115.1:p.Arg641=
XM_011528814.1:c.1530G>T	XP_011527116.1:p.Arg510=
NM_004518.5:c.1857G>T	NP_004509.2:p.Arg619=
NM_172106.2:c.1887G>T	NP_742104.1:p.Arg629=
NM_172107.3:c.1941G>T	NP_742105.1:p.Arg647=
NM_172108.4:c.1848G>T	NP_742106.1:p.Arg616=
XM_011528810.2:c.1995G>T	XP_011527112.1:p.Arg665=
XM_011528811.2:c.1965G>T	XP_011527113.1:p.Arg655=
XM_017027841.2:c.1992G>T	XP_016883330.1:p.Arg664=
XM_017027842.2:c.1929G>T	XP_016883331.1:p.Arg643=
XM_017027843.1:c.1926G>T	XP_016883332.1:p.Arg642=
XM_017027844.2:c.1884G>T	XP_016883333.1:p.Arg628=
XM_017027845.1:c.957G>T	XP_016883334.1:p.Arg319=
NM_004518.6:c.1857G>T	NP_004509.2:p.Arg619=
NM_172106.3:c.1887G>T	NP_742104.1:p.Arg629=
NM_172107.4:c.1941G>T MANE Select	NP_742105.1:p.Arg647=
NM_172108.5:c.1848G>T	NP_742106.1:p.Arg616=
NM_001382235.1:c.1995G>T	NP_001369164.1:p.Arg665=