Canonical Allele Identifier: CA409637475

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406897-G-A
• MyVariant Identifiers: chr20:g.62038250G>A (hg19) ; chr20:g.63406897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406897G>A , CM000682.2:g.63406897G>A	GRCh38
NC_000020.10:g.62038250G>A , CM000682.1:g.62038250G>A	GRCh37
NC_000020.9:g.61508694G>A	NCBI36
NG_009004.1:g.70744C>T
NG_009004.2:g.70744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2420C>T	ENSP00000516702.1:p.Ser807Phe
ENST00000359125.7:c.2366C>T MANE Select	ENSP00000352035.2:p.Ser789Phe
ENST00000637193.1:c.1763C>T	ENSP00000490734.1:p.Ser588Phe
ENST00000344462.8:c.2273C>T	ENSP00000339611.4:p.Ser758Phe
ENST00000357249.6:c.1934C>T	ENSP00000349789.3:p.Ser645Phe
ENST00000359125.6:c.2366C>T	ENSP00000352035.2:p.Ser789Phe
ENST00000360480.7:c.2282C>T	ENSP00000353668.3:p.Ser761Phe
ENST00000370224.5:c.2241+149C>T	ENSP00000359244.2:n.2241+149C>T
ENST00000625514.2:c.2205+149C>T	ENSP00000486040.1:n.2205+149C>T
ENST00000626839.2:c.2312C>T	ENSP00000486706.1:p.Ser771Phe
ENST00000629241.2:c.2133+149C>T	ENSP00000487142.1:n.2133+149C>T
ENST00000629676.2:c.1680-6054C>T	ENSP00000486194.1:n.1680-6054C>T
NM_004518.4:c.2282C>T	NP_004509.2:p.Ser761Phe
NM_172106.1:c.2312C>T	NP_742104.1:p.Ser771Phe
NM_172107.2:c.2366C>T	NP_742105.1:p.Ser789Phe
NM_172108.3:c.2273C>T	NP_742106.1:p.Ser758Phe
XM_006723787.1:c.2408C>T	XP_006723850.1:p.Ser803Phe
XM_011528807.1:c.2474C>T	XP_011527109.1:p.Ser825Phe
XM_011528808.1:c.2471C>T	XP_011527110.1:p.Ser824Phe
XM_011528809.1:c.2444C>T	XP_011527111.1:p.Ser815Phe
XM_011528810.1:c.2420C>T	XP_011527112.1:p.Ser807Phe
XM_011528811.1:c.2390C>T	XP_011527113.1:p.Ser797Phe
XM_011528812.1:c.2363C>T	XP_011527114.1:p.Ser788Phe
XM_011528813.1:c.2348C>T	XP_011527115.1:p.Ser783Phe
XM_011528814.1:c.1955C>T	XP_011527116.1:p.Ser652Phe
NM_004518.5:c.2282C>T	NP_004509.2:p.Ser761Phe
NM_172106.2:c.2312C>T	NP_742104.1:p.Ser771Phe
NM_172107.3:c.2366C>T	NP_742105.1:p.Ser789Phe
NM_172108.4:c.2273C>T	NP_742106.1:p.Ser758Phe
XM_011528810.2:c.2420C>T	XP_011527112.1:p.Ser807Phe
XM_011528811.2:c.2390C>T	XP_011527113.1:p.Ser797Phe
XM_017027841.2:c.2417C>T	XP_016883330.1:p.Ser806Phe
XM_017027842.2:c.2354C>T	XP_016883331.1:p.Ser785Phe
XM_017027843.1:c.2351C>T	XP_016883332.1:p.Ser784Phe
XM_017027844.2:c.2309C>T	XP_016883333.1:p.Ser770Phe
XM_017027845.1:c.1382C>T	XP_016883334.1:p.Ser461Phe
NM_004518.6:c.2282C>T	NP_004509.2:p.Ser761Phe
NM_172106.3:c.2312C>T	NP_742104.1:p.Ser771Phe
NM_172107.4:c.2366C>T MANE Select	NP_742105.1:p.Ser789Phe
NM_172108.5:c.2273C>T	NP_742106.1:p.Ser758Phe
NM_001382235.1:c.2420C>T	NP_001369164.1:p.Ser807Phe