Canonical Allele Identifier: CA291801

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413524G>A , CM000682.2:g.63413524G>A	GRCh38
NC_000020.10:g.62044877G>A , CM000682.1:g.62044877G>A	GRCh37
NC_000020.9:g.61515321G>A	NCBI36
NG_009004.1:g.64117C>T
NG_009004.2:g.64117C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_172107.4:c.1689C>T MANE Select	NP_742105.1:p.Asp563=
ENST00000359125.7:c.1689C>T MANE Select	ENSP00000352035.2:p.Asp563=
NM_001382235.1:c.1635C>T	NP_001369164.1:p.Asp545=
NM_004518.4:c.1605C>T	NP_004509.2:p.Asp535=
NM_004518.5:c.1605C>T	NP_004509.2:p.Asp535=
NM_004518.6:c.1605C>T	NP_004509.2:p.Asp535=
NM_172106.1:c.1635C>T	NP_742104.1:p.Asp545=
NM_172106.2:c.1635C>T	NP_742104.1:p.Asp545=
NM_172106.3:c.1635C>T	NP_742104.1:p.Asp545=
NM_172107.2:c.1689C>T	NP_742105.1:p.Asp563=
NM_172107.3:c.1689C>T	NP_742105.1:p.Asp563=
NM_172108.3:c.1596C>T	NP_742106.1:p.Asp532=
NM_172108.4:c.1596C>T	NP_742106.1:p.Asp532=
NM_172108.5:c.1596C>T	NP_742106.1:p.Asp532=
ENST00000344462.8:c.1596C>T	ENSP00000339611.4:p.Asp532=
ENST00000357249.6:c.1257C>T	ENSP00000349789.3:p.Asp419=
ENST00000359125.6:c.1689C>T	ENSP00000352035.2:p.Asp563=
ENST00000360480.7:c.1605C>T	ENSP00000353668.3:p.Asp535=
ENST00000370224.5:c.1605C>T	ENSP00000359244.2:p.Asp535=
ENST00000625514.2:c.1569C>T	ENSP00000486040.1:p.Asp523=
ENST00000626839.2:c.1635C>T	ENSP00000486706.1:p.Asp545=
ENST00000629241.2:c.1605C>T	ENSP00000487142.1:p.Asp535=
ENST00000629318.1:c.297C>T	ENSP00000487384.1:p.Asp99=
ENST00000629676.2:c.1605C>T	ENSP00000486194.1:p.Asp535=
ENST00000637193.1:c.1086C>T	ENSP00000490734.1:p.Asp362=
ENST00000706989.1:c.1635C>T	ENSP00000516702.1:p.Asp545=
XM_006723787.1:c.1689C>T	XP_006723850.1:p.Asp563=
XM_011528807.1:c.1689C>T	XP_011527109.1:p.Asp563=
XM_011528808.1:c.1686C>T	XP_011527110.1:p.Asp562=
XM_011528809.1:c.1659C>T	XP_011527111.1:p.Asp553=
XM_011528810.1:c.1635C>T	XP_011527112.1:p.Asp545=
XM_011528810.2:c.1635C>T	XP_011527112.1:p.Asp545=
XM_011528811.1:c.1605C>T	XP_011527113.1:p.Asp535=
XM_011528811.2:c.1605C>T	XP_011527113.1:p.Asp535=
XM_011528812.1:c.1686C>T	XP_011527114.1:p.Asp562=
XM_011528813.1:c.1563C>T	XP_011527115.1:p.Asp521=
XM_011528814.1:c.1170C>T	XP_011527116.1:p.Asp390=
XM_011528815.1:c.1689C>T	XP_011527117.1:p.Asp563=
XM_017027841.2:c.1632C>T	XP_016883330.1:p.Asp544=
XM_017027842.2:c.1635C>T	XP_016883331.1:p.Asp545=
XM_017027843.1:c.1566C>T	XP_016883332.1:p.Asp522=
XM_017027844.2:c.1632C>T	XP_016883333.1:p.Asp544=
XM_017027845.1:c.597C>T	XP_016883334.1:p.Asp199=