Canonical Allele Identifier: CA409636438

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406676-C-G
• MyVariant Identifiers: chr20:g.62038029C>G (hg19) ; chr20:g.63406676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406676C>G , CM000682.2:g.63406676C>G	GRCh38
NC_000020.10:g.62038029C>G , CM000682.1:g.62038029C>G	GRCh37
NC_000020.9:g.61508473C>G	NCBI36
NG_009004.1:g.70965G>C
NG_009004.2:g.70965G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2641G>C	ENSP00000516702.1:p.Gly881Arg
ENST00000359125.7:c.2587G>C MANE Select	ENSP00000352035.2:p.Gly863Arg
ENST00000637193.1:c.1984G>C	ENSP00000490734.1:p.Gly662Arg
ENST00000344462.8:c.2494G>C	ENSP00000339611.4:p.Gly832Arg
ENST00000357249.6:c.2155G>C	ENSP00000349789.3:p.Gly719Arg
ENST00000359125.6:c.2587G>C	ENSP00000352035.2:p.Gly863Arg
ENST00000360480.7:c.2503G>C	ENSP00000353668.3:p.Gly835Arg
ENST00000370224.5:c.2241+370G>C	ENSP00000359244.2:n.2241+370G>C
ENST00000625514.2:c.2205+370G>C	ENSP00000486040.1:n.2205+370G>C
ENST00000626839.2:c.2533G>C	ENSP00000486706.1:p.Gly845Arg
ENST00000629241.2:c.2133+370G>C	ENSP00000487142.1:n.2133+370G>C
ENST00000629676.2:c.1680-5833G>C	ENSP00000486194.1:n.1680-5833G>C
NM_004518.4:c.2503G>C	NP_004509.2:p.Gly835Arg
NM_172106.1:c.2533G>C	NP_742104.1:p.Gly845Arg
NM_172107.2:c.2587G>C	NP_742105.1:p.Gly863Arg
NM_172108.3:c.2494G>C	NP_742106.1:p.Gly832Arg
XM_006723787.1:c.2629G>C	XP_006723850.1:p.Gly877Arg
XM_011528807.1:c.2695G>C	XP_011527109.1:p.Gly899Arg
XM_011528808.1:c.2692G>C	XP_011527110.1:p.Gly898Arg
XM_011528809.1:c.2665G>C	XP_011527111.1:p.Gly889Arg
XM_011528810.1:c.2641G>C	XP_011527112.1:p.Gly881Arg
XM_011528811.1:c.2611G>C	XP_011527113.1:p.Gly871Arg
XM_011528812.1:c.2584G>C	XP_011527114.1:p.Gly862Arg
XM_011528813.1:c.2569G>C	XP_011527115.1:p.Gly857Arg
XM_011528814.1:c.2176G>C	XP_011527116.1:p.Gly726Arg
NM_004518.5:c.2503G>C	NP_004509.2:p.Gly835Arg
NM_172106.2:c.2533G>C	NP_742104.1:p.Gly845Arg
NM_172107.3:c.2587G>C	NP_742105.1:p.Gly863Arg
NM_172108.4:c.2494G>C	NP_742106.1:p.Gly832Arg
XM_011528810.2:c.2641G>C	XP_011527112.1:p.Gly881Arg
XM_011528811.2:c.2611G>C	XP_011527113.1:p.Gly871Arg
XM_017027841.2:c.2638G>C	XP_016883330.1:p.Gly880Arg
XM_017027842.2:c.2575G>C	XP_016883331.1:p.Gly859Arg
XM_017027843.1:c.2572G>C	XP_016883332.1:p.Gly858Arg
XM_017027844.2:c.2530G>C	XP_016883333.1:p.Gly844Arg
XM_017027845.1:c.1603G>C	XP_016883334.1:p.Gly535Arg
NM_004518.6:c.2503G>C	NP_004509.2:p.Gly835Arg
NM_172106.3:c.2533G>C	NP_742104.1:p.Gly845Arg
NM_172107.4:c.2587G>C MANE Select	NP_742105.1:p.Gly863Arg
NM_172108.5:c.2494G>C	NP_742106.1:p.Gly832Arg
NM_001382235.1:c.2641G>C	NP_001369164.1:p.Gly881Arg