Canonical Allele Identifier: CA511339427

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 704898
• ClinVar RCV Id: RCV002064793
• dbSNP Id: rs1162099839
• gnomAD v2: 20-62038579-A-G
• gnomAD v4: 20-63407226-A-G
• MyVariant Identifiers: chr20:g.62038579A>G (hg19) ; chr20:g.63407226A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407226A>G , CM000682.2:g.63407226A>G	GRCh38
NC_000020.10:g.62038579A>G , CM000682.1:g.62038579A>G	GRCh37
NC_000020.9:g.61509023A>G	NCBI36
NG_009004.1:g.70415T>C
NG_009004.2:g.70415T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2091T>C	ENSP00000516702.1:p.His697=
ENST00000359125.7:c.2037T>C MANE Select	ENSP00000352035.2:p.His679=
ENST00000637193.1:c.1434T>C	ENSP00000490734.1:p.His478=
ENST00000344462.8:c.1944T>C	ENSP00000339611.4:p.His648=
ENST00000357249.6:c.1605T>C	ENSP00000349789.3:p.His535=
ENST00000359125.6:c.2037T>C	ENSP00000352035.2:p.His679=
ENST00000360480.7:c.1953T>C	ENSP00000353668.3:p.His651=
ENST00000370224.5:c.2061T>C	ENSP00000359244.2:p.His687=
ENST00000625514.2:c.2025T>C	ENSP00000486040.1:p.His675=
ENST00000626839.2:c.1983T>C	ENSP00000486706.1:p.His661=
ENST00000629241.2:c.1953T>C	ENSP00000487142.1:p.His651=
ENST00000629676.2:c.1679+6224T>C	ENSP00000486194.1:n.1679+6224T>C
NM_004518.4:c.1953T>C	NP_004509.2:p.His651=
NM_172106.1:c.1983T>C	NP_742104.1:p.His661=
NM_172107.2:c.2037T>C	NP_742105.1:p.His679=
NM_172108.3:c.1944T>C	NP_742106.1:p.His648=
XM_006723787.1:c.2079T>C	XP_006723850.1:p.His693=
XM_011528807.1:c.2145T>C	XP_011527109.1:p.His715=
XM_011528808.1:c.2142T>C	XP_011527110.1:p.His714=
XM_011528809.1:c.2115T>C	XP_011527111.1:p.His705=
XM_011528810.1:c.2091T>C	XP_011527112.1:p.His697=
XM_011528811.1:c.2061T>C	XP_011527113.1:p.His687=
XM_011528812.1:c.2034T>C	XP_011527114.1:p.His678=
XM_011528813.1:c.2019T>C	XP_011527115.1:p.His673=
XM_011528814.1:c.1626T>C	XP_011527116.1:p.His542=
NM_004518.5:c.1953T>C	NP_004509.2:p.His651=
NM_172106.2:c.1983T>C	NP_742104.1:p.His661=
NM_172107.3:c.2037T>C	NP_742105.1:p.His679=
NM_172108.4:c.1944T>C	NP_742106.1:p.His648=
XM_011528810.2:c.2091T>C	XP_011527112.1:p.His697=
XM_011528811.2:c.2061T>C	XP_011527113.1:p.His687=
XM_017027841.2:c.2088T>C	XP_016883330.1:p.His696=
XM_017027842.2:c.2025T>C	XP_016883331.1:p.His675=
XM_017027843.1:c.2022T>C	XP_016883332.1:p.His674=
XM_017027844.2:c.1980T>C	XP_016883333.1:p.His660=
XM_017027845.1:c.1053T>C	XP_016883334.1:p.His351=
NM_004518.6:c.1953T>C	NP_004509.2:p.His651=
NM_172106.3:c.1983T>C	NP_742104.1:p.His661=
NM_172107.4:c.2037T>C MANE Select	NP_742105.1:p.His679=
NM_172108.5:c.1944T>C	NP_742106.1:p.His648=
NM_001382235.1:c.2091T>C	NP_001369164.1:p.His697=