Canonical Allele Identifier: CA409639156

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407238-G-T
• MyVariant Identifiers: chr20:g.62038591G>T (hg19) ; chr20:g.63407238G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2079C>A	ENSP00000516702.1:p.Asp693Glu
ENST00000359125.7:c.2025C>A MANE Select	ENSP00000352035.2:p.Asp675Glu
ENST00000637193.1:c.1422C>A	ENSP00000490734.1:p.Asp474Glu
ENST00000344462.8:c.1932C>A	ENSP00000339611.4:p.Asp644Glu
ENST00000357249.6:c.1593C>A	ENSP00000349789.3:p.Asp531Glu
ENST00000359125.6:c.2025C>A	ENSP00000352035.2:p.Asp675Glu
ENST00000360480.7:c.1941C>A	ENSP00000353668.3:p.Asp647Glu
ENST00000370224.5:c.2049C>A	ENSP00000359244.2:p.Asp683Glu
ENST00000625514.2:c.2013C>A	ENSP00000486040.1:p.Asp671Glu
ENST00000626839.2:c.1971C>A	ENSP00000486706.1:p.Asp657Glu
ENST00000629241.2:c.1941C>A	ENSP00000487142.1:p.Asp647Glu
ENST00000629676.2:c.1679+6212C>A	ENSP00000486194.1:n.1679+6212C>A
NM_004518.4:c.1941C>A	NP_004509.2:p.Asp647Glu
NM_172106.1:c.1971C>A	NP_742104.1:p.Asp657Glu
NM_172107.2:c.2025C>A	NP_742105.1:p.Asp675Glu
NM_172108.3:c.1932C>A	NP_742106.1:p.Asp644Glu
XM_006723787.1:c.2067C>A	XP_006723850.1:p.Asp689Glu
XM_011528807.1:c.2133C>A	XP_011527109.1:p.Asp711Glu
XM_011528808.1:c.2130C>A	XP_011527110.1:p.Asp710Glu
XM_011528809.1:c.2103C>A	XP_011527111.1:p.Asp701Glu
XM_011528810.1:c.2079C>A	XP_011527112.1:p.Asp693Glu
XM_011528811.1:c.2049C>A	XP_011527113.1:p.Asp683Glu
XM_011528812.1:c.2022C>A	XP_011527114.1:p.Asp674Glu
XM_011528813.1:c.2007C>A	XP_011527115.1:p.Asp669Glu
XM_011528814.1:c.1614C>A	XP_011527116.1:p.Asp538Glu
NM_004518.5:c.1941C>A	NP_004509.2:p.Asp647Glu
NM_172106.2:c.1971C>A	NP_742104.1:p.Asp657Glu
NM_172107.3:c.2025C>A	NP_742105.1:p.Asp675Glu
NM_172108.4:c.1932C>A	NP_742106.1:p.Asp644Glu
XM_011528810.2:c.2079C>A	XP_011527112.1:p.Asp693Glu
XM_011528811.2:c.2049C>A	XP_011527113.1:p.Asp683Glu
XM_017027841.2:c.2076C>A	XP_016883330.1:p.Asp692Glu
XM_017027842.2:c.2013C>A	XP_016883331.1:p.Asp671Glu
XM_017027843.1:c.2010C>A	XP_016883332.1:p.Asp670Glu
XM_017027844.2:c.1968C>A	XP_016883333.1:p.Asp656Glu
XM_017027845.1:c.1041C>A	XP_016883334.1:p.Asp347Glu
NM_004518.6:c.1941C>A	NP_004509.2:p.Asp647Glu
NM_172106.3:c.1971C>A	NP_742104.1:p.Asp657Glu
NM_172107.4:c.2025C>A MANE Select	NP_742105.1:p.Asp675Glu
NM_172108.5:c.1932C>A	NP_742106.1:p.Asp644Glu
NM_001382235.1:c.2079C>A	NP_001369164.1:p.Asp693Glu