Canonical Allele Identifier: CA409637843

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406951-G-T
• MyVariant Identifiers: chr20:g.62038304G>T (hg19) ; chr20:g.63406951G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406951G>T , CM000682.2:g.63406951G>T	GRCh38
NC_000020.10:g.62038304G>T , CM000682.1:g.62038304G>T	GRCh37
NC_000020.9:g.61508748G>T	NCBI36
NG_009004.1:g.70690C>A
NG_009004.2:g.70690C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2366C>A	ENSP00000516702.1:p.Thr789Asn
ENST00000359125.7:c.2312C>A MANE Select	ENSP00000352035.2:p.Thr771Asn
ENST00000637193.1:c.1709C>A	ENSP00000490734.1:p.Thr570Asn
ENST00000344462.8:c.2219C>A	ENSP00000339611.4:p.Thr740Asn
ENST00000357249.6:c.1880C>A	ENSP00000349789.3:p.Thr627Asn
ENST00000359125.6:c.2312C>A	ENSP00000352035.2:p.Thr771Asn
ENST00000360480.7:c.2228C>A	ENSP00000353668.3:p.Thr743Asn
ENST00000370224.5:c.2241+95C>A	ENSP00000359244.2:n.2241+95C>A
ENST00000625514.2:c.2205+95C>A	ENSP00000486040.1:n.2205+95C>A
ENST00000626839.2:c.2258C>A	ENSP00000486706.1:p.Thr753Asn
ENST00000629241.2:c.2133+95C>A	ENSP00000487142.1:n.2133+95C>A
ENST00000629676.2:c.1680-6108C>A	ENSP00000486194.1:n.1680-6108C>A
NM_004518.4:c.2228C>A	NP_004509.2:p.Thr743Asn
NM_172106.1:c.2258C>A	NP_742104.1:p.Thr753Asn
NM_172107.2:c.2312C>A	NP_742105.1:p.Thr771Asn
NM_172108.3:c.2219C>A	NP_742106.1:p.Thr740Asn
XM_006723787.1:c.2354C>A	XP_006723850.1:p.Thr785Asn
XM_011528807.1:c.2420C>A	XP_011527109.1:p.Thr807Asn
XM_011528808.1:c.2417C>A	XP_011527110.1:p.Thr806Asn
XM_011528809.1:c.2390C>A	XP_011527111.1:p.Thr797Asn
XM_011528810.1:c.2366C>A	XP_011527112.1:p.Thr789Asn
XM_011528811.1:c.2336C>A	XP_011527113.1:p.Thr779Asn
XM_011528812.1:c.2309C>A	XP_011527114.1:p.Thr770Asn
XM_011528813.1:c.2294C>A	XP_011527115.1:p.Thr765Asn
XM_011528814.1:c.1901C>A	XP_011527116.1:p.Thr634Asn
NM_004518.5:c.2228C>A	NP_004509.2:p.Thr743Asn
NM_172106.2:c.2258C>A	NP_742104.1:p.Thr753Asn
NM_172107.3:c.2312C>A	NP_742105.1:p.Thr771Asn
NM_172108.4:c.2219C>A	NP_742106.1:p.Thr740Asn
XM_011528810.2:c.2366C>A	XP_011527112.1:p.Thr789Asn
XM_011528811.2:c.2336C>A	XP_011527113.1:p.Thr779Asn
XM_017027841.2:c.2363C>A	XP_016883330.1:p.Thr788Asn
XM_017027842.2:c.2300C>A	XP_016883331.1:p.Thr767Asn
XM_017027843.1:c.2297C>A	XP_016883332.1:p.Thr766Asn
XM_017027844.2:c.2255C>A	XP_016883333.1:p.Thr752Asn
XM_017027845.1:c.1328C>A	XP_016883334.1:p.Thr443Asn
NM_004518.6:c.2228C>A	NP_004509.2:p.Thr743Asn
NM_172106.3:c.2258C>A	NP_742104.1:p.Thr753Asn
NM_172107.4:c.2312C>A MANE Select	NP_742105.1:p.Thr771Asn
NM_172108.5:c.2219C>A	NP_742106.1:p.Thr740Asn
NM_001382235.1:c.2366C>A	NP_001369164.1:p.Thr789Asn