Canonical Allele Identifier: CA9958197

Gene: KCNQ2

Linked Data

• dbSNP Id: rs752076408
• ExAC: 20:62038683 T / C
• gnomAD v2: 20-62038683-T-C
• gnomAD v4: 20-63407330-T-C
• MyVariant Identifiers: chr20:g.62038683T>C (hg19) ; chr20:g.63407330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407330T>C , CM000682.2:g.63407330T>C	GRCh38
NC_000020.10:g.62038683T>C , CM000682.1:g.62038683T>C	GRCh37
NC_000020.9:g.61509127T>C	NCBI36
NG_009004.1:g.70311A>G
NG_009004.2:g.70311A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1987A>G	ENSP00000516702.1:p.Met663Val
ENST00000359125.7:c.1933A>G MANE Select	ENSP00000352035.2:p.Met645Val
ENST00000637193.1:c.1330A>G	ENSP00000490734.1:p.Met444Val
ENST00000637338.1:n.90A>G
ENST00000344462.8:c.1840A>G	ENSP00000339611.4:p.Met614Val
ENST00000357249.6:c.1501A>G	ENSP00000349789.3:p.Met501Val
ENST00000359125.6:c.1933A>G	ENSP00000352035.2:p.Met645Val
ENST00000360480.7:c.1849A>G	ENSP00000353668.3:p.Met617Val
ENST00000370224.5:c.1957A>G	ENSP00000359244.2:p.Met653Val
ENST00000625514.2:c.1921A>G	ENSP00000486040.1:p.Met641Val
ENST00000626839.2:c.1879A>G	ENSP00000486706.1:p.Met627Val
ENST00000629241.2:c.1849A>G	ENSP00000487142.1:p.Met617Val
ENST00000629676.2:c.1679+6120A>G	ENSP00000486194.1:n.1679+6120A>G
NM_004518.4:c.1849A>G	NP_004509.2:p.Met617Val
NM_172106.1:c.1879A>G	NP_742104.1:p.Met627Val
NM_172107.2:c.1933A>G	NP_742105.1:p.Met645Val
NM_172108.3:c.1840A>G	NP_742106.1:p.Met614Val
XM_006723787.1:c.1975A>G	XP_006723850.1:p.Met659Val
XM_011528807.1:c.2041A>G	XP_011527109.1:p.Met681Val
XM_011528808.1:c.2038A>G	XP_011527110.1:p.Met680Val
XM_011528809.1:c.2011A>G	XP_011527111.1:p.Met671Val
XM_011528810.1:c.1987A>G	XP_011527112.1:p.Met663Val
XM_011528811.1:c.1957A>G	XP_011527113.1:p.Met653Val
XM_011528812.1:c.1930A>G	XP_011527114.1:p.Met644Val
XM_011528813.1:c.1915A>G	XP_011527115.1:p.Met639Val
XM_011528814.1:c.1522A>G	XP_011527116.1:p.Met508Val
NM_004518.5:c.1849A>G	NP_004509.2:p.Met617Val
NM_172106.2:c.1879A>G	NP_742104.1:p.Met627Val
NM_172107.3:c.1933A>G	NP_742105.1:p.Met645Val
NM_172108.4:c.1840A>G	NP_742106.1:p.Met614Val
XM_011528810.2:c.1987A>G	XP_011527112.1:p.Met663Val
XM_011528811.2:c.1957A>G	XP_011527113.1:p.Met653Val
XM_017027841.2:c.1984A>G	XP_016883330.1:p.Met662Val
XM_017027842.2:c.1921A>G	XP_016883331.1:p.Met641Val
XM_017027843.1:c.1918A>G	XP_016883332.1:p.Met640Val
XM_017027844.2:c.1876A>G	XP_016883333.1:p.Met626Val
XM_017027845.1:c.949A>G	XP_016883334.1:p.Met317Val
NM_004518.6:c.1849A>G	NP_004509.2:p.Met617Val
NM_172106.3:c.1879A>G	NP_742104.1:p.Met627Val
NM_172107.4:c.1933A>G MANE Select	NP_742105.1:p.Met645Val
NM_172108.5:c.1840A>G	NP_742106.1:p.Met614Val
NM_001382235.1:c.1987A>G	NP_001369164.1:p.Met663Val