Canonical Allele Identifier: CA409638887

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407128-C-T
• MyVariant Identifiers: chr20:g.62038481C>T (hg19) ; chr20:g.63407128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407128C>T , CM000682.2:g.63407128C>T	GRCh38
NC_000020.10:g.62038481C>T , CM000682.1:g.62038481C>T	GRCh37
NC_000020.9:g.61508925C>T	NCBI36
NG_009004.1:g.70513G>A
NG_009004.2:g.70513G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2189G>A	ENSP00000516702.1:p.Cys730Tyr
ENST00000359125.7:c.2135G>A MANE Select	ENSP00000352035.2:p.Cys712Tyr
ENST00000637193.1:c.1532G>A	ENSP00000490734.1:p.Cys511Tyr
ENST00000344462.8:c.2042G>A	ENSP00000339611.4:p.Cys681Tyr
ENST00000357249.6:c.1703G>A	ENSP00000349789.3:p.Cys568Tyr
ENST00000359125.6:c.2135G>A	ENSP00000352035.2:p.Cys712Tyr
ENST00000360480.7:c.2051G>A	ENSP00000353668.3:p.Cys684Tyr
ENST00000370224.5:c.2159G>A	ENSP00000359244.2:p.Cys720Tyr
ENST00000625514.2:c.2123G>A	ENSP00000486040.1:p.Cys708Tyr
ENST00000626839.2:c.2081G>A	ENSP00000486706.1:p.Cys694Tyr
ENST00000629241.2:c.2051G>A	ENSP00000487142.1:p.Cys684Tyr
ENST00000629676.2:c.1680-6285G>A	ENSP00000486194.1:n.1680-6285G>A
NM_004518.4:c.2051G>A	NP_004509.2:p.Cys684Tyr
NM_172106.1:c.2081G>A	NP_742104.1:p.Cys694Tyr
NM_172107.2:c.2135G>A	NP_742105.1:p.Cys712Tyr
NM_172108.3:c.2042G>A	NP_742106.1:p.Cys681Tyr
XM_006723787.1:c.2177G>A	XP_006723850.1:p.Cys726Tyr
XM_011528807.1:c.2243G>A	XP_011527109.1:p.Cys748Tyr
XM_011528808.1:c.2240G>A	XP_011527110.1:p.Cys747Tyr
XM_011528809.1:c.2213G>A	XP_011527111.1:p.Cys738Tyr
XM_011528810.1:c.2189G>A	XP_011527112.1:p.Cys730Tyr
XM_011528811.1:c.2159G>A	XP_011527113.1:p.Cys720Tyr
XM_011528812.1:c.2132G>A	XP_011527114.1:p.Cys711Tyr
XM_011528813.1:c.2117G>A	XP_011527115.1:p.Cys706Tyr
XM_011528814.1:c.1724G>A	XP_011527116.1:p.Cys575Tyr
NM_004518.5:c.2051G>A	NP_004509.2:p.Cys684Tyr
NM_172106.2:c.2081G>A	NP_742104.1:p.Cys694Tyr
NM_172107.3:c.2135G>A	NP_742105.1:p.Cys712Tyr
NM_172108.4:c.2042G>A	NP_742106.1:p.Cys681Tyr
XM_011528810.2:c.2189G>A	XP_011527112.1:p.Cys730Tyr
XM_011528811.2:c.2159G>A	XP_011527113.1:p.Cys720Tyr
XM_017027841.2:c.2186G>A	XP_016883330.1:p.Cys729Tyr
XM_017027842.2:c.2123G>A	XP_016883331.1:p.Cys708Tyr
XM_017027843.1:c.2120G>A	XP_016883332.1:p.Cys707Tyr
XM_017027844.2:c.2078G>A	XP_016883333.1:p.Cys693Tyr
XM_017027845.1:c.1151G>A	XP_016883334.1:p.Cys384Tyr
NM_004518.6:c.2051G>A	NP_004509.2:p.Cys684Tyr
NM_172106.3:c.2081G>A	NP_742104.1:p.Cys694Tyr
NM_172107.4:c.2135G>A MANE Select	NP_742105.1:p.Cys712Tyr
NM_172108.5:c.2042G>A	NP_742106.1:p.Cys681Tyr
NM_001382235.1:c.2189G>A	NP_001369164.1:p.Cys730Tyr