Canonical Allele Identifier: CA9958163

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1158341
• ClinVar RCV Id: RCV001501695
• dbSNP Id: rs368050380
• ExAC: 20:62038576 G / A
• gnomAD v2: 20-62038576-G-A
• gnomAD v3: 20-63407223-G-A
• gnomAD v4: 20-63407223-G-A
• MyVariant Identifiers: chr20:g.62038576G>A (hg19) ; chr20:g.63407223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407223G>A , CM000682.2:g.63407223G>A	GRCh38
NC_000020.10:g.62038576G>A , CM000682.1:g.62038576G>A	GRCh37
NC_000020.9:g.61509020G>A	NCBI36
NG_009004.1:g.70418C>T
NG_009004.2:g.70418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2094C>T	ENSP00000516702.1:p.Val698=
ENST00000359125.7:c.2040C>T MANE Select	ENSP00000352035.2:p.Val680=
ENST00000637193.1:c.1437C>T	ENSP00000490734.1:p.Val479=
ENST00000344462.8:c.1947C>T	ENSP00000339611.4:p.Val649=
ENST00000357249.6:c.1608C>T	ENSP00000349789.3:p.Val536=
ENST00000359125.6:c.2040C>T	ENSP00000352035.2:p.Val680=
ENST00000360480.7:c.1956C>T	ENSP00000353668.3:p.Val652=
ENST00000370224.5:c.2064C>T	ENSP00000359244.2:p.Val688=
ENST00000625514.2:c.2028C>T	ENSP00000486040.1:p.Val676=
ENST00000626839.2:c.1986C>T	ENSP00000486706.1:p.Val662=
ENST00000629241.2:c.1956C>T	ENSP00000487142.1:p.Val652=
ENST00000629676.2:c.1679+6227C>T	ENSP00000486194.1:n.1679+6227C>T
NM_004518.4:c.1956C>T	NP_004509.2:p.Val652=
NM_172106.1:c.1986C>T	NP_742104.1:p.Val662=
NM_172107.2:c.2040C>T	NP_742105.1:p.Val680=
NM_172108.3:c.1947C>T	NP_742106.1:p.Val649=
XM_006723787.1:c.2082C>T	XP_006723850.1:p.Val694=
XM_011528807.1:c.2148C>T	XP_011527109.1:p.Val716=
XM_011528808.1:c.2145C>T	XP_011527110.1:p.Val715=
XM_011528809.1:c.2118C>T	XP_011527111.1:p.Val706=
XM_011528810.1:c.2094C>T	XP_011527112.1:p.Val698=
XM_011528811.1:c.2064C>T	XP_011527113.1:p.Val688=
XM_011528812.1:c.2037C>T	XP_011527114.1:p.Val679=
XM_011528813.1:c.2022C>T	XP_011527115.1:p.Val674=
XM_011528814.1:c.1629C>T	XP_011527116.1:p.Val543=
NM_004518.5:c.1956C>T	NP_004509.2:p.Val652=
NM_172106.2:c.1986C>T	NP_742104.1:p.Val662=
NM_172107.3:c.2040C>T	NP_742105.1:p.Val680=
NM_172108.4:c.1947C>T	NP_742106.1:p.Val649=
XM_011528810.2:c.2094C>T	XP_011527112.1:p.Val698=
XM_011528811.2:c.2064C>T	XP_011527113.1:p.Val688=
XM_017027841.2:c.2091C>T	XP_016883330.1:p.Val697=
XM_017027842.2:c.2028C>T	XP_016883331.1:p.Val676=
XM_017027843.1:c.2025C>T	XP_016883332.1:p.Val675=
XM_017027844.2:c.1983C>T	XP_016883333.1:p.Val661=
XM_017027845.1:c.1056C>T	XP_016883334.1:p.Val352=
NM_004518.6:c.1956C>T	NP_004509.2:p.Val652=
NM_172106.3:c.1986C>T	NP_742104.1:p.Val662=
NM_172107.4:c.2040C>T MANE Select	NP_742105.1:p.Val680=
NM_172108.5:c.1947C>T	NP_742106.1:p.Val649=
NM_001382235.1:c.2094C>T	NP_001369164.1:p.Val698=