Canonical Allele Identifier: CA409637472

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038250G>T (hg19) ; chr20:g.63406897G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2420C>A	ENSP00000516702.1:p.Ser807Tyr
ENST00000359125.7:c.2366C>A MANE Select	ENSP00000352035.2:p.Ser789Tyr
ENST00000637193.1:c.1763C>A	ENSP00000490734.1:p.Ser588Tyr
ENST00000344462.8:c.2273C>A	ENSP00000339611.4:p.Ser758Tyr
ENST00000357249.6:c.1934C>A	ENSP00000349789.3:p.Ser645Tyr
ENST00000359125.6:c.2366C>A	ENSP00000352035.2:p.Ser789Tyr
ENST00000360480.7:c.2282C>A	ENSP00000353668.3:p.Ser761Tyr
ENST00000370224.5:c.2241+149C>A	ENSP00000359244.2:n.2241+149C>A
ENST00000625514.2:c.2205+149C>A	ENSP00000486040.1:n.2205+149C>A
ENST00000626839.2:c.2312C>A	ENSP00000486706.1:p.Ser771Tyr
ENST00000629241.2:c.2133+149C>A	ENSP00000487142.1:n.2133+149C>A
ENST00000629676.2:c.1680-6054C>A	ENSP00000486194.1:n.1680-6054C>A
NM_004518.4:c.2282C>A	NP_004509.2:p.Ser761Tyr
NM_172106.1:c.2312C>A	NP_742104.1:p.Ser771Tyr
NM_172107.2:c.2366C>A	NP_742105.1:p.Ser789Tyr
NM_172108.3:c.2273C>A	NP_742106.1:p.Ser758Tyr
XM_006723787.1:c.2408C>A	XP_006723850.1:p.Ser803Tyr
XM_011528807.1:c.2474C>A	XP_011527109.1:p.Ser825Tyr
XM_011528808.1:c.2471C>A	XP_011527110.1:p.Ser824Tyr
XM_011528809.1:c.2444C>A	XP_011527111.1:p.Ser815Tyr
XM_011528810.1:c.2420C>A	XP_011527112.1:p.Ser807Tyr
XM_011528811.1:c.2390C>A	XP_011527113.1:p.Ser797Tyr
XM_011528812.1:c.2363C>A	XP_011527114.1:p.Ser788Tyr
XM_011528813.1:c.2348C>A	XP_011527115.1:p.Ser783Tyr
XM_011528814.1:c.1955C>A	XP_011527116.1:p.Ser652Tyr
NM_004518.5:c.2282C>A	NP_004509.2:p.Ser761Tyr
NM_172106.2:c.2312C>A	NP_742104.1:p.Ser771Tyr
NM_172107.3:c.2366C>A	NP_742105.1:p.Ser789Tyr
NM_172108.4:c.2273C>A	NP_742106.1:p.Ser758Tyr
XM_011528810.2:c.2420C>A	XP_011527112.1:p.Ser807Tyr
XM_011528811.2:c.2390C>A	XP_011527113.1:p.Ser797Tyr
XM_017027841.2:c.2417C>A	XP_016883330.1:p.Ser806Tyr
XM_017027842.2:c.2354C>A	XP_016883331.1:p.Ser785Tyr
XM_017027843.1:c.2351C>A	XP_016883332.1:p.Ser784Tyr
XM_017027844.2:c.2309C>A	XP_016883333.1:p.Ser770Tyr
XM_017027845.1:c.1382C>A	XP_016883334.1:p.Ser461Tyr
NM_004518.6:c.2282C>A	NP_004509.2:p.Ser761Tyr
NM_172106.3:c.2312C>A	NP_742104.1:p.Ser771Tyr
NM_172107.4:c.2366C>A MANE Select	NP_742105.1:p.Ser789Tyr
NM_172108.5:c.2273C>A	NP_742106.1:p.Ser758Tyr
NM_001382235.1:c.2420C>A	NP_001369164.1:p.Ser807Tyr