Canonical Allele Identifier: CA511340017

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62044838C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413485C>A , CM000682.2:g.63413485C>A	GRCh38
NC_000020.10:g.62044838C>A , CM000682.1:g.62044838C>A	GRCh37
NC_000020.9:g.61515282C>A	NCBI36
NG_009004.1:g.64156G>T
NG_009004.2:g.64156G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1674G>T	ENSP00000516702.1:p.Leu558=
ENST00000359125.7:c.1728G>T MANE Select	ENSP00000352035.2:p.Leu576=
ENST00000637193.1:c.1125G>T	ENSP00000490734.1:p.Leu375=
ENST00000344462.8:c.1635G>T	ENSP00000339611.4:p.Leu545=
ENST00000357249.6:c.1296G>T	ENSP00000349789.3:p.Leu432=
ENST00000359125.6:c.1728G>T	ENSP00000352035.2:p.Leu576=
ENST00000360480.7:c.1644G>T	ENSP00000353668.3:p.Leu548=
ENST00000370224.5:c.1644G>T	ENSP00000359244.2:p.Leu548=
ENST00000625514.2:c.1608G>T	ENSP00000486040.1:p.Leu536=
ENST00000626839.2:c.1674G>T	ENSP00000486706.1:p.Leu558=
ENST00000629241.2:c.1644G>T	ENSP00000487142.1:p.Leu548=
ENST00000629318.1:c.336G>T	ENSP00000487384.1:p.Leu112=
ENST00000629676.2:c.1644G>T	ENSP00000486194.1:p.Leu548=
NM_004518.4:c.1644G>T	NP_004509.2:p.Leu548=
NM_172106.1:c.1674G>T	NP_742104.1:p.Leu558=
NM_172107.2:c.1728G>T	NP_742105.1:p.Leu576=
NM_172108.3:c.1635G>T	NP_742106.1:p.Leu545=
XM_006723787.1:c.1728G>T	XP_006723850.1:p.Leu576=
XM_011528807.1:c.1728G>T	XP_011527109.1:p.Leu576=
XM_011528808.1:c.1725G>T	XP_011527110.1:p.Leu575=
XM_011528809.1:c.1698G>T	XP_011527111.1:p.Leu566=
XM_011528810.1:c.1674G>T	XP_011527112.1:p.Leu558=
XM_011528811.1:c.1644G>T	XP_011527113.1:p.Leu548=
XM_011528812.1:c.1725G>T	XP_011527114.1:p.Leu575=
XM_011528813.1:c.1602G>T	XP_011527115.1:p.Leu534=
XM_011528814.1:c.1209G>T	XP_011527116.1:p.Leu403=
XM_011528815.1:c.1728G>T	XP_011527117.1:p.Leu576=
NM_004518.5:c.1644G>T	NP_004509.2:p.Leu548=
NM_172106.2:c.1674G>T	NP_742104.1:p.Leu558=
NM_172107.3:c.1728G>T	NP_742105.1:p.Leu576=
NM_172108.4:c.1635G>T	NP_742106.1:p.Leu545=
XM_011528810.2:c.1674G>T	XP_011527112.1:p.Leu558=
XM_011528811.2:c.1644G>T	XP_011527113.1:p.Leu548=
XM_017027841.2:c.1671G>T	XP_016883330.1:p.Leu557=
XM_017027842.2:c.1674G>T	XP_016883331.1:p.Leu558=
XM_017027843.1:c.1605G>T	XP_016883332.1:p.Leu535=
XM_017027844.2:c.1671G>T	XP_016883333.1:p.Leu557=
XM_017027845.1:c.636G>T	XP_016883334.1:p.Leu212=
NM_004518.6:c.1644G>T	NP_004509.2:p.Leu548=
NM_172106.3:c.1674G>T	NP_742104.1:p.Leu558=
NM_172107.4:c.1728G>T MANE Select	NP_742105.1:p.Leu576=
NM_172108.5:c.1635G>T	NP_742106.1:p.Leu545=
NM_001382235.1:c.1674G>T	NP_001369164.1:p.Leu558=