Canonical Allele Identifier: CA511339437

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2812918
• ClinVar RCV Id: RCV003754149
• gnomAD v4: 20-63407238-G-A
• MyVariant Identifiers: chr20:g.62038591G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407238G>A , CM000682.2:g.63407238G>A	GRCh38
NC_000020.10:g.62038591G>A , CM000682.1:g.62038591G>A	GRCh37
NC_000020.9:g.61509035G>A	NCBI36
NG_009004.1:g.70403C>T
NG_009004.2:g.70403C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2079C>T	ENSP00000516702.1:p.Asp693=
ENST00000359125.7:c.2025C>T MANE Select	ENSP00000352035.2:p.Asp675=
ENST00000637193.1:c.1422C>T	ENSP00000490734.1:p.Asp474=
ENST00000344462.8:c.1932C>T	ENSP00000339611.4:p.Asp644=
ENST00000357249.6:c.1593C>T	ENSP00000349789.3:p.Asp531=
ENST00000359125.6:c.2025C>T	ENSP00000352035.2:p.Asp675=
ENST00000360480.7:c.1941C>T	ENSP00000353668.3:p.Asp647=
ENST00000370224.5:c.2049C>T	ENSP00000359244.2:p.Asp683=
ENST00000625514.2:c.2013C>T	ENSP00000486040.1:p.Asp671=
ENST00000626839.2:c.1971C>T	ENSP00000486706.1:p.Asp657=
ENST00000629241.2:c.1941C>T	ENSP00000487142.1:p.Asp647=
ENST00000629676.2:c.1679+6212C>T	ENSP00000486194.1:n.1679+6212C>T
NM_004518.4:c.1941C>T	NP_004509.2:p.Asp647=
NM_172106.1:c.1971C>T	NP_742104.1:p.Asp657=
NM_172107.2:c.2025C>T	NP_742105.1:p.Asp675=
NM_172108.3:c.1932C>T	NP_742106.1:p.Asp644=
XM_006723787.1:c.2067C>T	XP_006723850.1:p.Asp689=
XM_011528807.1:c.2133C>T	XP_011527109.1:p.Asp711=
XM_011528808.1:c.2130C>T	XP_011527110.1:p.Asp710=
XM_011528809.1:c.2103C>T	XP_011527111.1:p.Asp701=
XM_011528810.1:c.2079C>T	XP_011527112.1:p.Asp693=
XM_011528811.1:c.2049C>T	XP_011527113.1:p.Asp683=
XM_011528812.1:c.2022C>T	XP_011527114.1:p.Asp674=
XM_011528813.1:c.2007C>T	XP_011527115.1:p.Asp669=
XM_011528814.1:c.1614C>T	XP_011527116.1:p.Asp538=
NM_004518.5:c.1941C>T	NP_004509.2:p.Asp647=
NM_172106.2:c.1971C>T	NP_742104.1:p.Asp657=
NM_172107.3:c.2025C>T	NP_742105.1:p.Asp675=
NM_172108.4:c.1932C>T	NP_742106.1:p.Asp644=
XM_011528810.2:c.2079C>T	XP_011527112.1:p.Asp693=
XM_011528811.2:c.2049C>T	XP_011527113.1:p.Asp683=
XM_017027841.2:c.2076C>T	XP_016883330.1:p.Asp692=
XM_017027842.2:c.2013C>T	XP_016883331.1:p.Asp671=
XM_017027843.1:c.2010C>T	XP_016883332.1:p.Asp670=
XM_017027844.2:c.1968C>T	XP_016883333.1:p.Asp656=
XM_017027845.1:c.1041C>T	XP_016883334.1:p.Asp347=
NM_004518.6:c.1941C>T	NP_004509.2:p.Asp647=
NM_172106.3:c.1971C>T	NP_742104.1:p.Asp657=
NM_172107.4:c.2025C>T MANE Select	NP_742105.1:p.Asp675=
NM_172108.5:c.1932C>T	NP_742106.1:p.Asp644=
NM_001382235.1:c.2079C>T	NP_001369164.1:p.Asp693=