Canonical Allele Identifier: CA409638800

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407107-T-C
• MyVariant Identifiers: chr20:g.62038460T>C (hg19) ; chr20:g.63407107T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407107T>C , CM000682.2:g.63407107T>C	GRCh38
NC_000020.10:g.62038460T>C , CM000682.1:g.62038460T>C	GRCh37
NC_000020.9:g.61508904T>C	NCBI36
NG_009004.1:g.70534A>G
NG_009004.2:g.70534A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2210A>G	ENSP00000516702.1:p.Gln737Arg
ENST00000359125.7:c.2156A>G MANE Select	ENSP00000352035.2:p.Gln719Arg
ENST00000637193.1:c.1553A>G	ENSP00000490734.1:p.Gln518Arg
ENST00000344462.8:c.2063A>G	ENSP00000339611.4:p.Gln688Arg
ENST00000357249.6:c.1724A>G	ENSP00000349789.3:p.Gln575Arg
ENST00000359125.6:c.2156A>G	ENSP00000352035.2:p.Gln719Arg
ENST00000360480.7:c.2072A>G	ENSP00000353668.3:p.Gln691Arg
ENST00000370224.5:c.2180A>G	ENSP00000359244.2:p.Gln727Arg
ENST00000625514.2:c.2144A>G	ENSP00000486040.1:p.Gln715Arg
ENST00000626839.2:c.2102A>G	ENSP00000486706.1:p.Gln701Arg
ENST00000629241.2:c.2072A>G	ENSP00000487142.1:p.Gln691Arg
ENST00000629676.2:c.1680-6264A>G	ENSP00000486194.1:n.1680-6264A>G
NM_004518.4:c.2072A>G	NP_004509.2:p.Gln691Arg
NM_172106.1:c.2102A>G	NP_742104.1:p.Gln701Arg
NM_172107.2:c.2156A>G	NP_742105.1:p.Gln719Arg
NM_172108.3:c.2063A>G	NP_742106.1:p.Gln688Arg
XM_006723787.1:c.2198A>G	XP_006723850.1:p.Gln733Arg
XM_011528807.1:c.2264A>G	XP_011527109.1:p.Gln755Arg
XM_011528808.1:c.2261A>G	XP_011527110.1:p.Gln754Arg
XM_011528809.1:c.2234A>G	XP_011527111.1:p.Gln745Arg
XM_011528810.1:c.2210A>G	XP_011527112.1:p.Gln737Arg
XM_011528811.1:c.2180A>G	XP_011527113.1:p.Gln727Arg
XM_011528812.1:c.2153A>G	XP_011527114.1:p.Gln718Arg
XM_011528813.1:c.2138A>G	XP_011527115.1:p.Gln713Arg
XM_011528814.1:c.1745A>G	XP_011527116.1:p.Gln582Arg
NM_004518.5:c.2072A>G	NP_004509.2:p.Gln691Arg
NM_172106.2:c.2102A>G	NP_742104.1:p.Gln701Arg
NM_172107.3:c.2156A>G	NP_742105.1:p.Gln719Arg
NM_172108.4:c.2063A>G	NP_742106.1:p.Gln688Arg
XM_011528810.2:c.2210A>G	XP_011527112.1:p.Gln737Arg
XM_011528811.2:c.2180A>G	XP_011527113.1:p.Gln727Arg
XM_017027841.2:c.2207A>G	XP_016883330.1:p.Gln736Arg
XM_017027842.2:c.2144A>G	XP_016883331.1:p.Gln715Arg
XM_017027843.1:c.2141A>G	XP_016883332.1:p.Gln714Arg
XM_017027844.2:c.2099A>G	XP_016883333.1:p.Gln700Arg
XM_017027845.1:c.1172A>G	XP_016883334.1:p.Gln391Arg
NM_004518.6:c.2072A>G	NP_004509.2:p.Gln691Arg
NM_172106.3:c.2102A>G	NP_742104.1:p.Gln701Arg
NM_172107.4:c.2156A>G MANE Select	NP_742105.1:p.Gln719Arg
NM_172108.5:c.2063A>G	NP_742106.1:p.Gln688Arg
NM_001382235.1:c.2210A>G	NP_001369164.1:p.Gln737Arg