Canonical Allele Identifier: CA9958118

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 378031
• ClinVar RCV Id: RCV000436515 ; RCV000559595 ; RCV001078587
• dbSNP Id: rs376327268
• ExAC: 20:62038372 G / A
• gnomAD v2: 20-62038372-G-A
• gnomAD v3: 20-63407019-G-A
• gnomAD v4: 20-63407019-G-A
• MyVariant Identifiers: chr20:g.62038372G>A (hg19) ; chr20:g.63407019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407019G>A , CM000682.2:g.63407019G>A	GRCh38
NC_000020.10:g.62038372G>A , CM000682.1:g.62038372G>A	GRCh37
NC_000020.9:g.61508816G>A	NCBI36
NG_009004.1:g.70622C>T
NG_009004.2:g.70622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2298C>T	ENSP00000516702.1:p.His766=
ENST00000359125.7:c.2244C>T MANE Select	ENSP00000352035.2:p.His748=
ENST00000637193.1:c.1641C>T	ENSP00000490734.1:p.His547=
ENST00000344462.8:c.2151C>T	ENSP00000339611.4:p.His717=
ENST00000357249.6:c.1812C>T	ENSP00000349789.3:p.His604=
ENST00000359125.6:c.2244C>T	ENSP00000352035.2:p.His748=
ENST00000360480.7:c.2160C>T	ENSP00000353668.3:p.His720=
ENST00000370224.5:c.2241+27C>T	ENSP00000359244.2:n.2241+27C>T
ENST00000625514.2:c.2205+27C>T	ENSP00000486040.1:n.2205+27C>T
ENST00000626839.2:c.2190C>T	ENSP00000486706.1:p.His730=
ENST00000629241.2:c.2133+27C>T	ENSP00000487142.1:n.2133+27C>T
ENST00000629676.2:c.1680-6176C>T	ENSP00000486194.1:n.1680-6176C>T
NM_004518.4:c.2160C>T	NP_004509.2:p.His720=
NM_172106.1:c.2190C>T	NP_742104.1:p.His730=
NM_172107.2:c.2244C>T	NP_742105.1:p.His748=
NM_172108.3:c.2151C>T	NP_742106.1:p.His717=
XM_006723787.1:c.2286C>T	XP_006723850.1:p.His762=
XM_011528807.1:c.2352C>T	XP_011527109.1:p.His784=
XM_011528808.1:c.2349C>T	XP_011527110.1:p.His783=
XM_011528809.1:c.2322C>T	XP_011527111.1:p.His774=
XM_011528810.1:c.2298C>T	XP_011527112.1:p.His766=
XM_011528811.1:c.2268C>T	XP_011527113.1:p.His756=
XM_011528812.1:c.2241C>T	XP_011527114.1:p.His747=
XM_011528813.1:c.2226C>T	XP_011527115.1:p.His742=
XM_011528814.1:c.1833C>T	XP_011527116.1:p.His611=
NM_004518.5:c.2160C>T	NP_004509.2:p.His720=
NM_172106.2:c.2190C>T	NP_742104.1:p.His730=
NM_172107.3:c.2244C>T	NP_742105.1:p.His748=
NM_172108.4:c.2151C>T	NP_742106.1:p.His717=
XM_011528810.2:c.2298C>T	XP_011527112.1:p.His766=
XM_011528811.2:c.2268C>T	XP_011527113.1:p.His756=
XM_017027841.2:c.2295C>T	XP_016883330.1:p.His765=
XM_017027842.2:c.2232C>T	XP_016883331.1:p.His744=
XM_017027843.1:c.2229C>T	XP_016883332.1:p.His743=
XM_017027844.2:c.2187C>T	XP_016883333.1:p.His729=
XM_017027845.1:c.1260C>T	XP_016883334.1:p.His420=
NM_004518.6:c.2160C>T	NP_004509.2:p.His720=
NM_172106.3:c.2190C>T	NP_742104.1:p.His730=
NM_172107.4:c.2244C>T MANE Select	NP_742105.1:p.His748=
NM_172108.5:c.2151C>T	NP_742106.1:p.His717=
NM_001382235.1:c.2298C>T	NP_001369164.1:p.His766=