Canonical Allele Identifier: CA409636440

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038029C>T (hg19) ; chr20:g.63406676C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2641G>A	ENSP00000516702.1:p.Gly881Ser
ENST00000359125.7:c.2587G>A MANE Select	ENSP00000352035.2:p.Gly863Ser
ENST00000637193.1:c.1984G>A	ENSP00000490734.1:p.Gly662Ser
ENST00000344462.8:c.2494G>A	ENSP00000339611.4:p.Gly832Ser
ENST00000357249.6:c.2155G>A	ENSP00000349789.3:p.Gly719Ser
ENST00000359125.6:c.2587G>A	ENSP00000352035.2:p.Gly863Ser
ENST00000360480.7:c.2503G>A	ENSP00000353668.3:p.Gly835Ser
ENST00000370224.5:c.2241+370G>A	ENSP00000359244.2:n.2241+370G>A
ENST00000625514.2:c.2205+370G>A	ENSP00000486040.1:n.2205+370G>A
ENST00000626839.2:c.2533G>A	ENSP00000486706.1:p.Gly845Ser
ENST00000629241.2:c.2133+370G>A	ENSP00000487142.1:n.2133+370G>A
ENST00000629676.2:c.1680-5833G>A	ENSP00000486194.1:n.1680-5833G>A
NM_004518.4:c.2503G>A	NP_004509.2:p.Gly835Ser
NM_172106.1:c.2533G>A	NP_742104.1:p.Gly845Ser
NM_172107.2:c.2587G>A	NP_742105.1:p.Gly863Ser
NM_172108.3:c.2494G>A	NP_742106.1:p.Gly832Ser
XM_006723787.1:c.2629G>A	XP_006723850.1:p.Gly877Ser
XM_011528807.1:c.2695G>A	XP_011527109.1:p.Gly899Ser
XM_011528808.1:c.2692G>A	XP_011527110.1:p.Gly898Ser
XM_011528809.1:c.2665G>A	XP_011527111.1:p.Gly889Ser
XM_011528810.1:c.2641G>A	XP_011527112.1:p.Gly881Ser
XM_011528811.1:c.2611G>A	XP_011527113.1:p.Gly871Ser
XM_011528812.1:c.2584G>A	XP_011527114.1:p.Gly862Ser
XM_011528813.1:c.2569G>A	XP_011527115.1:p.Gly857Ser
XM_011528814.1:c.2176G>A	XP_011527116.1:p.Gly726Ser
NM_004518.5:c.2503G>A	NP_004509.2:p.Gly835Ser
NM_172106.2:c.2533G>A	NP_742104.1:p.Gly845Ser
NM_172107.3:c.2587G>A	NP_742105.1:p.Gly863Ser
NM_172108.4:c.2494G>A	NP_742106.1:p.Gly832Ser
XM_011528810.2:c.2641G>A	XP_011527112.1:p.Gly881Ser
XM_011528811.2:c.2611G>A	XP_011527113.1:p.Gly871Ser
XM_017027841.2:c.2638G>A	XP_016883330.1:p.Gly880Ser
XM_017027842.2:c.2575G>A	XP_016883331.1:p.Gly859Ser
XM_017027843.1:c.2572G>A	XP_016883332.1:p.Gly858Ser
XM_017027844.2:c.2530G>A	XP_016883333.1:p.Gly844Ser
XM_017027845.1:c.1603G>A	XP_016883334.1:p.Gly535Ser
NM_004518.6:c.2503G>A	NP_004509.2:p.Gly835Ser
NM_172106.3:c.2533G>A	NP_742104.1:p.Gly845Ser
NM_172107.4:c.2587G>A MANE Select	NP_742105.1:p.Gly863Ser
NM_172108.5:c.2494G>A	NP_742106.1:p.Gly832Ser
NM_001382235.1:c.2641G>A	NP_001369164.1:p.Gly881Ser