Canonical Allele Identifier: CA511339282

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407142-C-A
• MyVariant Identifiers: chr20:g.62038495C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407142C>A , CM000682.2:g.63407142C>A	GRCh38
NC_000020.10:g.62038495C>A , CM000682.1:g.62038495C>A	GRCh37
NC_000020.9:g.61508939C>A	NCBI36
NG_009004.1:g.70499G>T
NG_009004.2:g.70499G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2175G>T	ENSP00000516702.1:p.Ala725=
ENST00000359125.7:c.2121G>T MANE Select	ENSP00000352035.2:p.Ala707=
ENST00000637193.1:c.1518G>T	ENSP00000490734.1:p.Ala506=
ENST00000344462.8:c.2028G>T	ENSP00000339611.4:p.Ala676=
ENST00000357249.6:c.1689G>T	ENSP00000349789.3:p.Ala563=
ENST00000359125.6:c.2121G>T	ENSP00000352035.2:p.Ala707=
ENST00000360480.7:c.2037G>T	ENSP00000353668.3:p.Ala679=
ENST00000370224.5:c.2145G>T	ENSP00000359244.2:p.Ala715=
ENST00000625514.2:c.2109G>T	ENSP00000486040.1:p.Ala703=
ENST00000626839.2:c.2067G>T	ENSP00000486706.1:p.Ala689=
ENST00000629241.2:c.2037G>T	ENSP00000487142.1:p.Ala679=
ENST00000629676.2:c.1680-6299G>T	ENSP00000486194.1:n.1680-6299G>T
NM_004518.4:c.2037G>T	NP_004509.2:p.Ala679=
NM_172106.1:c.2067G>T	NP_742104.1:p.Ala689=
NM_172107.2:c.2121G>T	NP_742105.1:p.Ala707=
NM_172108.3:c.2028G>T	NP_742106.1:p.Ala676=
XM_006723787.1:c.2163G>T	XP_006723850.1:p.Ala721=
XM_011528807.1:c.2229G>T	XP_011527109.1:p.Ala743=
XM_011528808.1:c.2226G>T	XP_011527110.1:p.Ala742=
XM_011528809.1:c.2199G>T	XP_011527111.1:p.Ala733=
XM_011528810.1:c.2175G>T	XP_011527112.1:p.Ala725=
XM_011528811.1:c.2145G>T	XP_011527113.1:p.Ala715=
XM_011528812.1:c.2118G>T	XP_011527114.1:p.Ala706=
XM_011528813.1:c.2103G>T	XP_011527115.1:p.Ala701=
XM_011528814.1:c.1710G>T	XP_011527116.1:p.Ala570=
NM_004518.5:c.2037G>T	NP_004509.2:p.Ala679=
NM_172106.2:c.2067G>T	NP_742104.1:p.Ala689=
NM_172107.3:c.2121G>T	NP_742105.1:p.Ala707=
NM_172108.4:c.2028G>T	NP_742106.1:p.Ala676=
XM_011528810.2:c.2175G>T	XP_011527112.1:p.Ala725=
XM_011528811.2:c.2145G>T	XP_011527113.1:p.Ala715=
XM_017027841.2:c.2172G>T	XP_016883330.1:p.Ala724=
XM_017027842.2:c.2109G>T	XP_016883331.1:p.Ala703=
XM_017027843.1:c.2106G>T	XP_016883332.1:p.Ala702=
XM_017027844.2:c.2064G>T	XP_016883333.1:p.Ala688=
XM_017027845.1:c.1137G>T	XP_016883334.1:p.Ala379=
NM_004518.6:c.2037G>T	NP_004509.2:p.Ala679=
NM_172106.3:c.2067G>T	NP_742104.1:p.Ala689=
NM_172107.4:c.2121G>T MANE Select	NP_742105.1:p.Ala707=
NM_172108.5:c.2028G>T	NP_742106.1:p.Ala676=
NM_001382235.1:c.2175G>T	NP_001369164.1:p.Ala725=