Canonical Allele Identifier: CA409636434

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038028C>T (hg19) ; chr20:g.63406675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406675C>T , CM000682.2:g.63406675C>T	GRCh38
NC_000020.10:g.62038028C>T , CM000682.1:g.62038028C>T	GRCh37
NC_000020.9:g.61508472C>T	NCBI36
NG_009004.1:g.70966G>A
NG_009004.2:g.70966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2642G>A	ENSP00000516702.1:p.Gly881Asp
ENST00000359125.7:c.2588G>A MANE Select	ENSP00000352035.2:p.Gly863Asp
ENST00000637193.1:c.1985G>A	ENSP00000490734.1:p.Gly662Asp
ENST00000344462.8:c.2495G>A	ENSP00000339611.4:p.Gly832Asp
ENST00000357249.6:c.2156G>A	ENSP00000349789.3:p.Gly719Asp
ENST00000359125.6:c.2588G>A	ENSP00000352035.2:p.Gly863Asp
ENST00000360480.7:c.2504G>A	ENSP00000353668.3:p.Gly835Asp
ENST00000370224.5:c.2241+371G>A	ENSP00000359244.2:n.2241+371G>A
ENST00000625514.2:c.2205+371G>A	ENSP00000486040.1:n.2205+371G>A
ENST00000626839.2:c.2534G>A	ENSP00000486706.1:p.Gly845Asp
ENST00000629241.2:c.2133+371G>A	ENSP00000487142.1:n.2133+371G>A
ENST00000629676.2:c.1680-5832G>A	ENSP00000486194.1:n.1680-5832G>A
NM_004518.4:c.2504G>A	NP_004509.2:p.Gly835Asp
NM_172106.1:c.2534G>A	NP_742104.1:p.Gly845Asp
NM_172107.2:c.2588G>A	NP_742105.1:p.Gly863Asp
NM_172108.3:c.2495G>A	NP_742106.1:p.Gly832Asp
XM_006723787.1:c.2630G>A	XP_006723850.1:p.Gly877Asp
XM_011528807.1:c.2696G>A	XP_011527109.1:p.Gly899Asp
XM_011528808.1:c.2693G>A	XP_011527110.1:p.Gly898Asp
XM_011528809.1:c.2666G>A	XP_011527111.1:p.Gly889Asp
XM_011528810.1:c.2642G>A	XP_011527112.1:p.Gly881Asp
XM_011528811.1:c.2612G>A	XP_011527113.1:p.Gly871Asp
XM_011528812.1:c.2585G>A	XP_011527114.1:p.Gly862Asp
XM_011528813.1:c.2570G>A	XP_011527115.1:p.Gly857Asp
XM_011528814.1:c.2177G>A	XP_011527116.1:p.Gly726Asp
NM_004518.5:c.2504G>A	NP_004509.2:p.Gly835Asp
NM_172106.2:c.2534G>A	NP_742104.1:p.Gly845Asp
NM_172107.3:c.2588G>A	NP_742105.1:p.Gly863Asp
NM_172108.4:c.2495G>A	NP_742106.1:p.Gly832Asp
XM_011528810.2:c.2642G>A	XP_011527112.1:p.Gly881Asp
XM_011528811.2:c.2612G>A	XP_011527113.1:p.Gly871Asp
XM_017027841.2:c.2639G>A	XP_016883330.1:p.Gly880Asp
XM_017027842.2:c.2576G>A	XP_016883331.1:p.Gly859Asp
XM_017027843.1:c.2573G>A	XP_016883332.1:p.Gly858Asp
XM_017027844.2:c.2531G>A	XP_016883333.1:p.Gly844Asp
XM_017027845.1:c.1604G>A	XP_016883334.1:p.Gly535Asp
NM_004518.6:c.2504G>A	NP_004509.2:p.Gly835Asp
NM_172106.3:c.2534G>A	NP_742104.1:p.Gly845Asp
NM_172107.4:c.2588G>A MANE Select	NP_742105.1:p.Gly863Asp
NM_172108.5:c.2495G>A	NP_742106.1:p.Gly832Asp
NM_001382235.1:c.2642G>A	NP_001369164.1:p.Gly881Asp