Canonical Allele Identifier: CA409637095

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038182C>G (hg19) ; chr20:g.63406829C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406829C>G , CM000682.2:g.63406829C>G	GRCh38
NC_000020.10:g.62038182C>G , CM000682.1:g.62038182C>G	GRCh37
NC_000020.9:g.61508626C>G	NCBI36
NG_009004.1:g.70812G>C
NG_009004.2:g.70812G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2488G>C	ENSP00000516702.1:p.Glu830Gln
ENST00000359125.7:c.2434G>C MANE Select	ENSP00000352035.2:p.Glu812Gln
ENST00000637193.1:c.1831G>C	ENSP00000490734.1:p.Glu611Gln
ENST00000344462.8:c.2341G>C	ENSP00000339611.4:p.Glu781Gln
ENST00000357249.6:c.2002G>C	ENSP00000349789.3:p.Glu668Gln
ENST00000359125.6:c.2434G>C	ENSP00000352035.2:p.Glu812Gln
ENST00000360480.7:c.2350G>C	ENSP00000353668.3:p.Glu784Gln
ENST00000370224.5:c.2241+217G>C	ENSP00000359244.2:n.2241+217G>C
ENST00000625514.2:c.2205+217G>C	ENSP00000486040.1:n.2205+217G>C
ENST00000626839.2:c.2380G>C	ENSP00000486706.1:p.Glu794Gln
ENST00000629241.2:c.2133+217G>C	ENSP00000487142.1:n.2133+217G>C
ENST00000629676.2:c.1680-5986G>C	ENSP00000486194.1:n.1680-5986G>C
NM_004518.4:c.2350G>C	NP_004509.2:p.Glu784Gln
NM_172106.1:c.2380G>C	NP_742104.1:p.Glu794Gln
NM_172107.2:c.2434G>C	NP_742105.1:p.Glu812Gln
NM_172108.3:c.2341G>C	NP_742106.1:p.Glu781Gln
XM_006723787.1:c.2476G>C	XP_006723850.1:p.Glu826Gln
XM_011528807.1:c.2542G>C	XP_011527109.1:p.Glu848Gln
XM_011528808.1:c.2539G>C	XP_011527110.1:p.Glu847Gln
XM_011528809.1:c.2512G>C	XP_011527111.1:p.Glu838Gln
XM_011528810.1:c.2488G>C	XP_011527112.1:p.Glu830Gln
XM_011528811.1:c.2458G>C	XP_011527113.1:p.Glu820Gln
XM_011528812.1:c.2431G>C	XP_011527114.1:p.Glu811Gln
XM_011528813.1:c.2416G>C	XP_011527115.1:p.Glu806Gln
XM_011528814.1:c.2023G>C	XP_011527116.1:p.Glu675Gln
NM_004518.5:c.2350G>C	NP_004509.2:p.Glu784Gln
NM_172106.2:c.2380G>C	NP_742104.1:p.Glu794Gln
NM_172107.3:c.2434G>C	NP_742105.1:p.Glu812Gln
NM_172108.4:c.2341G>C	NP_742106.1:p.Glu781Gln
XM_011528810.2:c.2488G>C	XP_011527112.1:p.Glu830Gln
XM_011528811.2:c.2458G>C	XP_011527113.1:p.Glu820Gln
XM_017027841.2:c.2485G>C	XP_016883330.1:p.Glu829Gln
XM_017027842.2:c.2422G>C	XP_016883331.1:p.Glu808Gln
XM_017027843.1:c.2419G>C	XP_016883332.1:p.Glu807Gln
XM_017027844.2:c.2377G>C	XP_016883333.1:p.Glu793Gln
XM_017027845.1:c.1450G>C	XP_016883334.1:p.Glu484Gln
NM_004518.6:c.2350G>C	NP_004509.2:p.Glu784Gln
NM_172106.3:c.2380G>C	NP_742104.1:p.Glu794Gln
NM_172107.4:c.2434G>C MANE Select	NP_742105.1:p.Glu812Gln
NM_172108.5:c.2341G>C	NP_742106.1:p.Glu781Gln
NM_001382235.1:c.2488G>C	NP_001369164.1:p.Glu830Gln