Canonical Allele Identifier: CA511339326

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406953-G-A
• MyVariant Identifiers: chr20:g.62038306G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406953G>A , CM000682.2:g.63406953G>A	GRCh38
NC_000020.10:g.62038306G>A , CM000682.1:g.62038306G>A	GRCh37
NC_000020.9:g.61508750G>A	NCBI36
NG_009004.1:g.70688C>T
NG_009004.2:g.70688C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2364C>T	ENSP00000516702.1:p.Asp788=
ENST00000359125.7:c.2310C>T MANE Select	ENSP00000352035.2:p.Asp770=
ENST00000637193.1:c.1707C>T	ENSP00000490734.1:p.Asp569=
ENST00000344462.8:c.2217C>T	ENSP00000339611.4:p.Asp739=
ENST00000357249.6:c.1878C>T	ENSP00000349789.3:p.Asp626=
ENST00000359125.6:c.2310C>T	ENSP00000352035.2:p.Asp770=
ENST00000360480.7:c.2226C>T	ENSP00000353668.3:p.Asp742=
ENST00000370224.5:c.2241+93C>T	ENSP00000359244.2:n.2241+93C>T
ENST00000625514.2:c.2205+93C>T	ENSP00000486040.1:n.2205+93C>T
ENST00000626839.2:c.2256C>T	ENSP00000486706.1:p.Asp752=
ENST00000629241.2:c.2133+93C>T	ENSP00000487142.1:n.2133+93C>T
ENST00000629676.2:c.1680-6110C>T	ENSP00000486194.1:n.1680-6110C>T
NM_004518.4:c.2226C>T	NP_004509.2:p.Asp742=
NM_172106.1:c.2256C>T	NP_742104.1:p.Asp752=
NM_172107.2:c.2310C>T	NP_742105.1:p.Asp770=
NM_172108.3:c.2217C>T	NP_742106.1:p.Asp739=
XM_006723787.1:c.2352C>T	XP_006723850.1:p.Asp784=
XM_011528807.1:c.2418C>T	XP_011527109.1:p.Asp806=
XM_011528808.1:c.2415C>T	XP_011527110.1:p.Asp805=
XM_011528809.1:c.2388C>T	XP_011527111.1:p.Asp796=
XM_011528810.1:c.2364C>T	XP_011527112.1:p.Asp788=
XM_011528811.1:c.2334C>T	XP_011527113.1:p.Asp778=
XM_011528812.1:c.2307C>T	XP_011527114.1:p.Asp769=
XM_011528813.1:c.2292C>T	XP_011527115.1:p.Asp764=
XM_011528814.1:c.1899C>T	XP_011527116.1:p.Asp633=
NM_004518.5:c.2226C>T	NP_004509.2:p.Asp742=
NM_172106.2:c.2256C>T	NP_742104.1:p.Asp752=
NM_172107.3:c.2310C>T	NP_742105.1:p.Asp770=
NM_172108.4:c.2217C>T	NP_742106.1:p.Asp739=
XM_011528810.2:c.2364C>T	XP_011527112.1:p.Asp788=
XM_011528811.2:c.2334C>T	XP_011527113.1:p.Asp778=
XM_017027841.2:c.2361C>T	XP_016883330.1:p.Asp787=
XM_017027842.2:c.2298C>T	XP_016883331.1:p.Asp766=
XM_017027843.1:c.2295C>T	XP_016883332.1:p.Asp765=
XM_017027844.2:c.2253C>T	XP_016883333.1:p.Asp751=
XM_017027845.1:c.1326C>T	XP_016883334.1:p.Asp442=
NM_004518.6:c.2226C>T	NP_004509.2:p.Asp742=
NM_172106.3:c.2256C>T	NP_742104.1:p.Asp752=
NM_172107.4:c.2310C>T MANE Select	NP_742105.1:p.Asp770=
NM_172108.5:c.2217C>T	NP_742106.1:p.Asp739=
NM_001382235.1:c.2364C>T	NP_001369164.1:p.Asp788=