Canonical Allele Identifier: CA409639143

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 964951
• ClinVar RCV Id: RCV001239282
• dbSNP Id: rs2079974270
• gnomAD v4: 20-63407231-C-T
• MyVariant Identifiers: chr20:g.62038584C>T (hg19) ; chr20:g.63407231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407231C>T , CM000682.2:g.63407231C>T	GRCh38
NC_000020.10:g.62038584C>T , CM000682.1:g.62038584C>T	GRCh37
NC_000020.9:g.61509028C>T	NCBI36
NG_009004.1:g.70410G>A
NG_009004.2:g.70410G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2086G>A	ENSP00000516702.1:p.Glu696Lys
ENST00000359125.7:c.2032G>A MANE Select	ENSP00000352035.2:p.Glu678Lys
ENST00000637193.1:c.1429G>A	ENSP00000490734.1:p.Glu477Lys
ENST00000344462.8:c.1939G>A	ENSP00000339611.4:p.Glu647Lys
ENST00000357249.6:c.1600G>A	ENSP00000349789.3:p.Glu534Lys
ENST00000359125.6:c.2032G>A	ENSP00000352035.2:p.Glu678Lys
ENST00000360480.7:c.1948G>A	ENSP00000353668.3:p.Glu650Lys
ENST00000370224.5:c.2056G>A	ENSP00000359244.2:p.Glu686Lys
ENST00000625514.2:c.2020G>A	ENSP00000486040.1:p.Glu674Lys
ENST00000626839.2:c.1978G>A	ENSP00000486706.1:p.Glu660Lys
ENST00000629241.2:c.1948G>A	ENSP00000487142.1:p.Glu650Lys
ENST00000629676.2:c.1679+6219G>A	ENSP00000486194.1:n.1679+6219G>A
NM_004518.4:c.1948G>A	NP_004509.2:p.Glu650Lys
NM_172106.1:c.1978G>A	NP_742104.1:p.Glu660Lys
NM_172107.2:c.2032G>A	NP_742105.1:p.Glu678Lys
NM_172108.3:c.1939G>A	NP_742106.1:p.Glu647Lys
XM_006723787.1:c.2074G>A	XP_006723850.1:p.Glu692Lys
XM_011528807.1:c.2140G>A	XP_011527109.1:p.Glu714Lys
XM_011528808.1:c.2137G>A	XP_011527110.1:p.Glu713Lys
XM_011528809.1:c.2110G>A	XP_011527111.1:p.Glu704Lys
XM_011528810.1:c.2086G>A	XP_011527112.1:p.Glu696Lys
XM_011528811.1:c.2056G>A	XP_011527113.1:p.Glu686Lys
XM_011528812.1:c.2029G>A	XP_011527114.1:p.Glu677Lys
XM_011528813.1:c.2014G>A	XP_011527115.1:p.Glu672Lys
XM_011528814.1:c.1621G>A	XP_011527116.1:p.Glu541Lys
NM_004518.5:c.1948G>A	NP_004509.2:p.Glu650Lys
NM_172106.2:c.1978G>A	NP_742104.1:p.Glu660Lys
NM_172107.3:c.2032G>A	NP_742105.1:p.Glu678Lys
NM_172108.4:c.1939G>A	NP_742106.1:p.Glu647Lys
XM_011528810.2:c.2086G>A	XP_011527112.1:p.Glu696Lys
XM_011528811.2:c.2056G>A	XP_011527113.1:p.Glu686Lys
XM_017027841.2:c.2083G>A	XP_016883330.1:p.Glu695Lys
XM_017027842.2:c.2020G>A	XP_016883331.1:p.Glu674Lys
XM_017027843.1:c.2017G>A	XP_016883332.1:p.Glu673Lys
XM_017027844.2:c.1975G>A	XP_016883333.1:p.Glu659Lys
XM_017027845.1:c.1048G>A	XP_016883334.1:p.Glu350Lys
NM_004518.6:c.1948G>A	NP_004509.2:p.Glu650Lys
NM_172106.3:c.1978G>A	NP_742104.1:p.Glu660Lys
NM_172107.4:c.2032G>A MANE Select	NP_742105.1:p.Glu678Lys
NM_172108.5:c.1939G>A	NP_742106.1:p.Glu647Lys
NM_001382235.1:c.2086G>A	NP_001369164.1:p.Glu696Lys