Canonical Allele Identifier: CA511339279

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038273C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406920C>A , CM000682.2:g.63406920C>A	GRCh38
NC_000020.10:g.62038273C>A , CM000682.1:g.62038273C>A	GRCh37
NC_000020.9:g.61508717C>A	NCBI36
NG_009004.1:g.70721G>T
NG_009004.2:g.70721G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2397G>T	ENSP00000516702.1:p.Leu799=
ENST00000359125.7:c.2343G>T MANE Select	ENSP00000352035.2:p.Leu781=
ENST00000637193.1:c.1740G>T	ENSP00000490734.1:p.Leu580=
ENST00000344462.8:c.2250G>T	ENSP00000339611.4:p.Leu750=
ENST00000357249.6:c.1911G>T	ENSP00000349789.3:p.Leu637=
ENST00000359125.6:c.2343G>T	ENSP00000352035.2:p.Leu781=
ENST00000360480.7:c.2259G>T	ENSP00000353668.3:p.Leu753=
ENST00000370224.5:c.2241+126G>T	ENSP00000359244.2:n.2241+126G>T
ENST00000625514.2:c.2205+126G>T	ENSP00000486040.1:n.2205+126G>T
ENST00000626839.2:c.2289G>T	ENSP00000486706.1:p.Leu763=
ENST00000629241.2:c.2133+126G>T	ENSP00000487142.1:n.2133+126G>T
ENST00000629676.2:c.1680-6077G>T	ENSP00000486194.1:n.1680-6077G>T
NM_004518.4:c.2259G>T	NP_004509.2:p.Leu753=
NM_172106.1:c.2289G>T	NP_742104.1:p.Leu763=
NM_172107.2:c.2343G>T	NP_742105.1:p.Leu781=
NM_172108.3:c.2250G>T	NP_742106.1:p.Leu750=
XM_006723787.1:c.2385G>T	XP_006723850.1:p.Leu795=
XM_011528807.1:c.2451G>T	XP_011527109.1:p.Leu817=
XM_011528808.1:c.2448G>T	XP_011527110.1:p.Leu816=
XM_011528809.1:c.2421G>T	XP_011527111.1:p.Leu807=
XM_011528810.1:c.2397G>T	XP_011527112.1:p.Leu799=
XM_011528811.1:c.2367G>T	XP_011527113.1:p.Leu789=
XM_011528812.1:c.2340G>T	XP_011527114.1:p.Leu780=
XM_011528813.1:c.2325G>T	XP_011527115.1:p.Leu775=
XM_011528814.1:c.1932G>T	XP_011527116.1:p.Leu644=
NM_004518.5:c.2259G>T	NP_004509.2:p.Leu753=
NM_172106.2:c.2289G>T	NP_742104.1:p.Leu763=
NM_172107.3:c.2343G>T	NP_742105.1:p.Leu781=
NM_172108.4:c.2250G>T	NP_742106.1:p.Leu750=
XM_011528810.2:c.2397G>T	XP_011527112.1:p.Leu799=
XM_011528811.2:c.2367G>T	XP_011527113.1:p.Leu789=
XM_017027841.2:c.2394G>T	XP_016883330.1:p.Leu798=
XM_017027842.2:c.2331G>T	XP_016883331.1:p.Leu777=
XM_017027843.1:c.2328G>T	XP_016883332.1:p.Leu776=
XM_017027844.2:c.2286G>T	XP_016883333.1:p.Leu762=
XM_017027845.1:c.1359G>T	XP_016883334.1:p.Leu453=
NM_004518.6:c.2259G>T	NP_004509.2:p.Leu753=
NM_172106.3:c.2289G>T	NP_742104.1:p.Leu763=
NM_172107.4:c.2343G>T MANE Select	NP_742105.1:p.Leu781=
NM_172108.5:c.2250G>T	NP_742106.1:p.Leu750=
NM_001382235.1:c.2397G>T	NP_001369164.1:p.Leu799=