Canonical Allele Identifier: CA409638525

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407057-G-T
• MyVariant Identifiers: chr20:g.62038410G>T (hg19) ; chr20:g.63407057G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407057G>T , CM000682.2:g.63407057G>T	GRCh38
NC_000020.10:g.62038410G>T , CM000682.1:g.62038410G>T	GRCh37
NC_000020.9:g.61508854G>T	NCBI36
NG_009004.1:g.70584C>A
NG_009004.2:g.70584C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2260C>A	ENSP00000516702.1:p.His754Asn
ENST00000359125.7:c.2206C>A MANE Select	ENSP00000352035.2:p.His736Asn
ENST00000637193.1:c.1603C>A	ENSP00000490734.1:p.His535Asn
ENST00000344462.8:c.2113C>A	ENSP00000339611.4:p.His705Asn
ENST00000357249.6:c.1774C>A	ENSP00000349789.3:p.His592Asn
ENST00000359125.6:c.2206C>A	ENSP00000352035.2:p.His736Asn
ENST00000360480.7:c.2122C>A	ENSP00000353668.3:p.His708Asn
ENST00000370224.5:c.2230C>A	ENSP00000359244.2:p.His744Asn
ENST00000625514.2:c.2194C>A	ENSP00000486040.1:p.His732Asn
ENST00000626839.2:c.2152C>A	ENSP00000486706.1:p.His718Asn
ENST00000629241.2:c.2122C>A	ENSP00000487142.1:p.His708Asn
ENST00000629676.2:c.1680-6214C>A	ENSP00000486194.1:n.1680-6214C>A
NM_004518.4:c.2122C>A	NP_004509.2:p.His708Asn
NM_172106.1:c.2152C>A	NP_742104.1:p.His718Asn
NM_172107.2:c.2206C>A	NP_742105.1:p.His736Asn
NM_172108.3:c.2113C>A	NP_742106.1:p.His705Asn
XM_006723787.1:c.2248C>A	XP_006723850.1:p.His750Asn
XM_011528807.1:c.2314C>A	XP_011527109.1:p.His772Asn
XM_011528808.1:c.2311C>A	XP_011527110.1:p.His771Asn
XM_011528809.1:c.2284C>A	XP_011527111.1:p.His762Asn
XM_011528810.1:c.2260C>A	XP_011527112.1:p.His754Asn
XM_011528811.1:c.2230C>A	XP_011527113.1:p.His744Asn
XM_011528812.1:c.2203C>A	XP_011527114.1:p.His735Asn
XM_011528813.1:c.2188C>A	XP_011527115.1:p.His730Asn
XM_011528814.1:c.1795C>A	XP_011527116.1:p.His599Asn
NM_004518.5:c.2122C>A	NP_004509.2:p.His708Asn
NM_172106.2:c.2152C>A	NP_742104.1:p.His718Asn
NM_172107.3:c.2206C>A	NP_742105.1:p.His736Asn
NM_172108.4:c.2113C>A	NP_742106.1:p.His705Asn
XM_011528810.2:c.2260C>A	XP_011527112.1:p.His754Asn
XM_011528811.2:c.2230C>A	XP_011527113.1:p.His744Asn
XM_017027841.2:c.2257C>A	XP_016883330.1:p.His753Asn
XM_017027842.2:c.2194C>A	XP_016883331.1:p.His732Asn
XM_017027843.1:c.2191C>A	XP_016883332.1:p.His731Asn
XM_017027844.2:c.2149C>A	XP_016883333.1:p.His717Asn
XM_017027845.1:c.1222C>A	XP_016883334.1:p.His408Asn
NM_004518.6:c.2122C>A	NP_004509.2:p.His708Asn
NM_172106.3:c.2152C>A	NP_742104.1:p.His718Asn
NM_172107.4:c.2206C>A MANE Select	NP_742105.1:p.His736Asn
NM_172108.5:c.2113C>A	NP_742106.1:p.His705Asn
NM_001382235.1:c.2260C>A	NP_001369164.1:p.His754Asn