Canonical Allele Identifier: CA409637109

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038185T>C (hg19) ; chr20:g.63406832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406832T>C , CM000682.2:g.63406832T>C	GRCh38
NC_000020.10:g.62038185T>C , CM000682.1:g.62038185T>C	GRCh37
NC_000020.9:g.61508629T>C	NCBI36
NG_009004.1:g.70809A>G
NG_009004.2:g.70809A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2485A>G	ENSP00000516702.1:p.Lys829Glu
ENST00000359125.7:c.2431A>G MANE Select	ENSP00000352035.2:p.Lys811Glu
ENST00000637193.1:c.1828A>G	ENSP00000490734.1:p.Lys610Glu
ENST00000344462.8:c.2338A>G	ENSP00000339611.4:p.Lys780Glu
ENST00000357249.6:c.1999A>G	ENSP00000349789.3:p.Lys667Glu
ENST00000359125.6:c.2431A>G	ENSP00000352035.2:p.Lys811Glu
ENST00000360480.7:c.2347A>G	ENSP00000353668.3:p.Lys783Glu
ENST00000370224.5:c.2241+214A>G	ENSP00000359244.2:n.2241+214A>G
ENST00000625514.2:c.2205+214A>G	ENSP00000486040.1:n.2205+214A>G
ENST00000626839.2:c.2377A>G	ENSP00000486706.1:p.Lys793Glu
ENST00000629241.2:c.2133+214A>G	ENSP00000487142.1:n.2133+214A>G
ENST00000629676.2:c.1680-5989A>G	ENSP00000486194.1:n.1680-5989A>G
NM_004518.4:c.2347A>G	NP_004509.2:p.Lys783Glu
NM_172106.1:c.2377A>G	NP_742104.1:p.Lys793Glu
NM_172107.2:c.2431A>G	NP_742105.1:p.Lys811Glu
NM_172108.3:c.2338A>G	NP_742106.1:p.Lys780Glu
XM_006723787.1:c.2473A>G	XP_006723850.1:p.Lys825Glu
XM_011528807.1:c.2539A>G	XP_011527109.1:p.Lys847Glu
XM_011528808.1:c.2536A>G	XP_011527110.1:p.Lys846Glu
XM_011528809.1:c.2509A>G	XP_011527111.1:p.Lys837Glu
XM_011528810.1:c.2485A>G	XP_011527112.1:p.Lys829Glu
XM_011528811.1:c.2455A>G	XP_011527113.1:p.Lys819Glu
XM_011528812.1:c.2428A>G	XP_011527114.1:p.Lys810Glu
XM_011528813.1:c.2413A>G	XP_011527115.1:p.Lys805Glu
XM_011528814.1:c.2020A>G	XP_011527116.1:p.Lys674Glu
NM_004518.5:c.2347A>G	NP_004509.2:p.Lys783Glu
NM_172106.2:c.2377A>G	NP_742104.1:p.Lys793Glu
NM_172107.3:c.2431A>G	NP_742105.1:p.Lys811Glu
NM_172108.4:c.2338A>G	NP_742106.1:p.Lys780Glu
XM_011528810.2:c.2485A>G	XP_011527112.1:p.Lys829Glu
XM_011528811.2:c.2455A>G	XP_011527113.1:p.Lys819Glu
XM_017027841.2:c.2482A>G	XP_016883330.1:p.Lys828Glu
XM_017027842.2:c.2419A>G	XP_016883331.1:p.Lys807Glu
XM_017027843.1:c.2416A>G	XP_016883332.1:p.Lys806Glu
XM_017027844.2:c.2374A>G	XP_016883333.1:p.Lys792Glu
XM_017027845.1:c.1447A>G	XP_016883334.1:p.Lys483Glu
NM_004518.6:c.2347A>G	NP_004509.2:p.Lys783Glu
NM_172106.3:c.2377A>G	NP_742104.1:p.Lys793Glu
NM_172107.4:c.2431A>G MANE Select	NP_742105.1:p.Lys811Glu
NM_172108.5:c.2338A>G	NP_742106.1:p.Lys780Glu
NM_001382235.1:c.2485A>G	NP_001369164.1:p.Lys829Glu