Canonical Allele Identifier: CA409639001

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407167-T-C
• MyVariant Identifiers: chr20:g.62038520T>C (hg19) ; chr20:g.63407167T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407167T>C , CM000682.2:g.63407167T>C	GRCh38
NC_000020.10:g.62038520T>C , CM000682.1:g.62038520T>C	GRCh37
NC_000020.9:g.61508964T>C	NCBI36
NG_009004.1:g.70474A>G
NG_009004.2:g.70474A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2150A>G	ENSP00000516702.1:p.Lys717Arg
ENST00000359125.7:c.2096A>G MANE Select	ENSP00000352035.2:p.Lys699Arg
ENST00000637193.1:c.1493A>G	ENSP00000490734.1:p.Lys498Arg
ENST00000344462.8:c.2003A>G	ENSP00000339611.4:p.Lys668Arg
ENST00000357249.6:c.1664A>G	ENSP00000349789.3:p.Lys555Arg
ENST00000359125.6:c.2096A>G	ENSP00000352035.2:p.Lys699Arg
ENST00000360480.7:c.2012A>G	ENSP00000353668.3:p.Lys671Arg
ENST00000370224.5:c.2120A>G	ENSP00000359244.2:p.Lys707Arg
ENST00000625514.2:c.2084A>G	ENSP00000486040.1:p.Lys695Arg
ENST00000626839.2:c.2042A>G	ENSP00000486706.1:p.Lys681Arg
ENST00000629241.2:c.2012A>G	ENSP00000487142.1:p.Lys671Arg
ENST00000629676.2:c.1679+6283A>G	ENSP00000486194.1:n.1679+6283A>G
NM_004518.4:c.2012A>G	NP_004509.2:p.Lys671Arg
NM_172106.1:c.2042A>G	NP_742104.1:p.Lys681Arg
NM_172107.2:c.2096A>G	NP_742105.1:p.Lys699Arg
NM_172108.3:c.2003A>G	NP_742106.1:p.Lys668Arg
XM_006723787.1:c.2138A>G	XP_006723850.1:p.Lys713Arg
XM_011528807.1:c.2204A>G	XP_011527109.1:p.Lys735Arg
XM_011528808.1:c.2201A>G	XP_011527110.1:p.Lys734Arg
XM_011528809.1:c.2174A>G	XP_011527111.1:p.Lys725Arg
XM_011528810.1:c.2150A>G	XP_011527112.1:p.Lys717Arg
XM_011528811.1:c.2120A>G	XP_011527113.1:p.Lys707Arg
XM_011528812.1:c.2093A>G	XP_011527114.1:p.Lys698Arg
XM_011528813.1:c.2078A>G	XP_011527115.1:p.Lys693Arg
XM_011528814.1:c.1685A>G	XP_011527116.1:p.Lys562Arg
NM_004518.5:c.2012A>G	NP_004509.2:p.Lys671Arg
NM_172106.2:c.2042A>G	NP_742104.1:p.Lys681Arg
NM_172107.3:c.2096A>G	NP_742105.1:p.Lys699Arg
NM_172108.4:c.2003A>G	NP_742106.1:p.Lys668Arg
XM_011528810.2:c.2150A>G	XP_011527112.1:p.Lys717Arg
XM_011528811.2:c.2120A>G	XP_011527113.1:p.Lys707Arg
XM_017027841.2:c.2147A>G	XP_016883330.1:p.Lys716Arg
XM_017027842.2:c.2084A>G	XP_016883331.1:p.Lys695Arg
XM_017027843.1:c.2081A>G	XP_016883332.1:p.Lys694Arg
XM_017027844.2:c.2039A>G	XP_016883333.1:p.Lys680Arg
XM_017027845.1:c.1112A>G	XP_016883334.1:p.Lys371Arg
NM_004518.6:c.2012A>G	NP_004509.2:p.Lys671Arg
NM_172106.3:c.2042A>G	NP_742104.1:p.Lys681Arg
NM_172107.4:c.2096A>G MANE Select	NP_742105.1:p.Lys699Arg
NM_172108.5:c.2003A>G	NP_742106.1:p.Lys668Arg
NM_001382235.1:c.2150A>G	NP_001369164.1:p.Lys717Arg