Canonical Allele Identifier: CA409639144

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407233-C-A
• MyVariant Identifiers: chr20:g.62038586C>A (hg19) ; chr20:g.63407233C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407233C>A , CM000682.2:g.63407233C>A	GRCh38
NC_000020.10:g.62038586C>A , CM000682.1:g.62038586C>A	GRCh37
NC_000020.9:g.61509030C>A	NCBI36
NG_009004.1:g.70408G>T
NG_009004.2:g.70408G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2084G>T	ENSP00000516702.1:p.Arg695Leu
ENST00000359125.7:c.2030G>T MANE Select	ENSP00000352035.2:p.Arg677Leu
ENST00000637193.1:c.1427G>T	ENSP00000490734.1:p.Arg476Leu
ENST00000344462.8:c.1937G>T	ENSP00000339611.4:p.Arg646Leu
ENST00000357249.6:c.1598G>T	ENSP00000349789.3:p.Arg533Leu
ENST00000359125.6:c.2030G>T	ENSP00000352035.2:p.Arg677Leu
ENST00000360480.7:c.1946G>T	ENSP00000353668.3:p.Arg649Leu
ENST00000370224.5:c.2054G>T	ENSP00000359244.2:p.Arg685Leu
ENST00000625514.2:c.2018G>T	ENSP00000486040.1:p.Arg673Leu
ENST00000626839.2:c.1976G>T	ENSP00000486706.1:p.Arg659Leu
ENST00000629241.2:c.1946G>T	ENSP00000487142.1:p.Arg649Leu
ENST00000629676.2:c.1679+6217G>T	ENSP00000486194.1:n.1679+6217G>T
NM_004518.4:c.1946G>T	NP_004509.2:p.Arg649Leu
NM_172106.1:c.1976G>T	NP_742104.1:p.Arg659Leu
NM_172107.2:c.2030G>T	NP_742105.1:p.Arg677Leu
NM_172108.3:c.1937G>T	NP_742106.1:p.Arg646Leu
XM_006723787.1:c.2072G>T	XP_006723850.1:p.Arg691Leu
XM_011528807.1:c.2138G>T	XP_011527109.1:p.Arg713Leu
XM_011528808.1:c.2135G>T	XP_011527110.1:p.Arg712Leu
XM_011528809.1:c.2108G>T	XP_011527111.1:p.Arg703Leu
XM_011528810.1:c.2084G>T	XP_011527112.1:p.Arg695Leu
XM_011528811.1:c.2054G>T	XP_011527113.1:p.Arg685Leu
XM_011528812.1:c.2027G>T	XP_011527114.1:p.Arg676Leu
XM_011528813.1:c.2012G>T	XP_011527115.1:p.Arg671Leu
XM_011528814.1:c.1619G>T	XP_011527116.1:p.Arg540Leu
NM_004518.5:c.1946G>T	NP_004509.2:p.Arg649Leu
NM_172106.2:c.1976G>T	NP_742104.1:p.Arg659Leu
NM_172107.3:c.2030G>T	NP_742105.1:p.Arg677Leu
NM_172108.4:c.1937G>T	NP_742106.1:p.Arg646Leu
XM_011528810.2:c.2084G>T	XP_011527112.1:p.Arg695Leu
XM_011528811.2:c.2054G>T	XP_011527113.1:p.Arg685Leu
XM_017027841.2:c.2081G>T	XP_016883330.1:p.Arg694Leu
XM_017027842.2:c.2018G>T	XP_016883331.1:p.Arg673Leu
XM_017027843.1:c.2015G>T	XP_016883332.1:p.Arg672Leu
XM_017027844.2:c.1973G>T	XP_016883333.1:p.Arg658Leu
XM_017027845.1:c.1046G>T	XP_016883334.1:p.Arg349Leu
NM_004518.6:c.1946G>T	NP_004509.2:p.Arg649Leu
NM_172106.3:c.1976G>T	NP_742104.1:p.Arg659Leu
NM_172107.4:c.2030G>T MANE Select	NP_742105.1:p.Arg677Leu
NM_172108.5:c.1937G>T	NP_742106.1:p.Arg646Leu
NM_001382235.1:c.2084G>T	NP_001369164.1:p.Arg695Leu