Canonical Allele Identifier: CA9958192

Gene: KCNQ2

Linked Data

• dbSNP Id: rs200124638
• ExAC: 20:62038670 C / G
• gnomAD v3: 20-63407317-C-G
• gnomAD v4: 20-63407317-C-G
• MyVariant Identifiers: chr20:g.62038670C>G (hg19) ; chr20:g.63407317C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407317C>G , CM000682.2:g.63407317C>G	GRCh38
NC_000020.10:g.62038670C>G , CM000682.1:g.62038670C>G	GRCh37
NC_000020.9:g.61509114C>G	NCBI36
NG_009004.1:g.70324G>C
NG_009004.2:g.70324G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2000G>C	ENSP00000516702.1:p.Gly667Ala
ENST00000359125.7:c.1946G>C MANE Select	ENSP00000352035.2:p.Gly649Ala
ENST00000637193.1:c.1343G>C	ENSP00000490734.1:p.Gly448Ala
ENST00000344462.8:c.1853G>C	ENSP00000339611.4:p.Gly618Ala
ENST00000357249.6:c.1514G>C	ENSP00000349789.3:p.Gly505Ala
ENST00000359125.6:c.1946G>C	ENSP00000352035.2:p.Gly649Ala
ENST00000360480.7:c.1862G>C	ENSP00000353668.3:p.Gly621Ala
ENST00000370224.5:c.1970G>C	ENSP00000359244.2:p.Gly657Ala
ENST00000625514.2:c.1934G>C	ENSP00000486040.1:p.Gly645Ala
ENST00000626839.2:c.1892G>C	ENSP00000486706.1:p.Gly631Ala
ENST00000629241.2:c.1862G>C	ENSP00000487142.1:p.Gly621Ala
ENST00000629676.2:c.1679+6133G>C	ENSP00000486194.1:n.1679+6133G>C
NM_004518.4:c.1862G>C	NP_004509.2:p.Gly621Ala
NM_172106.1:c.1892G>C	NP_742104.1:p.Gly631Ala
NM_172107.2:c.1946G>C	NP_742105.1:p.Gly649Ala
NM_172108.3:c.1853G>C	NP_742106.1:p.Gly618Ala
XM_006723787.1:c.1988G>C	XP_006723850.1:p.Gly663Ala
XM_011528807.1:c.2054G>C	XP_011527109.1:p.Gly685Ala
XM_011528808.1:c.2051G>C	XP_011527110.1:p.Gly684Ala
XM_011528809.1:c.2024G>C	XP_011527111.1:p.Gly675Ala
XM_011528810.1:c.2000G>C	XP_011527112.1:p.Gly667Ala
XM_011528811.1:c.1970G>C	XP_011527113.1:p.Gly657Ala
XM_011528812.1:c.1943G>C	XP_011527114.1:p.Gly648Ala
XM_011528813.1:c.1928G>C	XP_011527115.1:p.Gly643Ala
XM_011528814.1:c.1535G>C	XP_011527116.1:p.Gly512Ala
NM_004518.5:c.1862G>C	NP_004509.2:p.Gly621Ala
NM_172106.2:c.1892G>C	NP_742104.1:p.Gly631Ala
NM_172107.3:c.1946G>C	NP_742105.1:p.Gly649Ala
NM_172108.4:c.1853G>C	NP_742106.1:p.Gly618Ala
XM_011528810.2:c.2000G>C	XP_011527112.1:p.Gly667Ala
XM_011528811.2:c.1970G>C	XP_011527113.1:p.Gly657Ala
XM_017027841.2:c.1997G>C	XP_016883330.1:p.Gly666Ala
XM_017027842.2:c.1934G>C	XP_016883331.1:p.Gly645Ala
XM_017027843.1:c.1931G>C	XP_016883332.1:p.Gly644Ala
XM_017027844.2:c.1889G>C	XP_016883333.1:p.Gly630Ala
XM_017027845.1:c.962G>C	XP_016883334.1:p.Gly321Ala
NM_004518.6:c.1862G>C	NP_004509.2:p.Gly621Ala
NM_172106.3:c.1892G>C	NP_742104.1:p.Gly631Ala
NM_172107.4:c.1946G>C MANE Select	NP_742105.1:p.Gly649Ala
NM_172108.5:c.1853G>C	NP_742106.1:p.Gly618Ala
NM_001382235.1:c.2000G>C	NP_001369164.1:p.Gly667Ala