Canonical Allele Identifier: CA2842871706

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407129_63407130del , CM000682.2:g.63407129_63407130del	GRCh38
NC_000020.10:g.62038482_62038483del , CM000682.1:g.62038482_62038483del	GRCh37
NC_000020.9:g.61508926_61508927del	NCBI36
NG_009004.1:g.70513_70514del
NG_009004.2:g.70513_70514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2189_2190del	ENSP00000516702.1:p.Cys730SerfsTer?
ENST00000359125.7:c.2135_2136del MANE Select	ENSP00000352035.2:p.Cys712SerfsTer?
ENST00000637193.1:c.1532_1533del	ENSP00000490734.1:p.Cys511SerfsTer?
ENST00000344462.8:c.2042_2043del	ENSP00000339611.4:p.Cys681SerfsTer?
ENST00000357249.6:c.1703_1704del	ENSP00000349789.3:p.Cys568SerfsTer?
ENST00000359125.6:c.2135_2136del	ENSP00000352035.2:p.Cys712SerfsTer?
ENST00000360480.7:c.2051_2052del	ENSP00000353668.3:p.Cys684SerfsTer?
ENST00000370224.5:c.2159_2160del	ENSP00000359244.2:p.Cys720SerfsTer?
ENST00000625514.2:c.2123_2124del	ENSP00000486040.1:p.Cys708SerfsTer?
ENST00000626839.2:c.2081_2082del	ENSP00000486706.1:p.Cys694SerfsTer?
ENST00000629241.2:c.2051_2052del	ENSP00000487142.1:p.Cys684SerfsTer?
ENST00000629676.2:c.1680-6285_1680-6284del	ENSP00000486194.1:n.1680-6285_1680-6284del
NM_004518.4:c.2051_2052del	NP_004509.2:p.Cys684SerfsTer?
NM_172106.1:c.2081_2082del	NP_742104.1:p.Cys694SerfsTer?
NM_172107.2:c.2135_2136del	NP_742105.1:p.Cys712SerfsTer?
NM_172108.3:c.2042_2043del	NP_742106.1:p.Cys681SerfsTer?
XM_006723787.1:c.2177_2178del	XP_006723850.1:p.Cys726SerfsTer?
XM_011528807.1:c.2243_2244del	XP_011527109.1:p.Cys748SerfsTer?
XM_011528808.1:c.2240_2241del	XP_011527110.1:p.Cys747SerfsTer?
XM_011528809.1:c.2213_2214del	XP_011527111.1:p.Cys738SerfsTer?
XM_011528810.1:c.2189_2190del	XP_011527112.1:p.Cys730SerfsTer?
XM_011528811.1:c.2159_2160del	XP_011527113.1:p.Cys720SerfsTer?
XM_011528812.1:c.2132_2133del	XP_011527114.1:p.Cys711SerfsTer?
XM_011528813.1:c.2117_2118del	XP_011527115.1:p.Cys706SerfsTer?
XM_011528814.1:c.1724_1725del	XP_011527116.1:p.Cys575SerfsTer?
NM_004518.5:c.2051_2052del	NP_004509.2:p.Cys684SerfsTer?
NM_172106.2:c.2081_2082del	NP_742104.1:p.Cys694SerfsTer?
NM_172107.3:c.2135_2136del	NP_742105.1:p.Cys712SerfsTer?
NM_172108.4:c.2042_2043del	NP_742106.1:p.Cys681SerfsTer?
XM_011528810.2:c.2189_2190del	XP_011527112.1:p.Cys730SerfsTer?
XM_011528811.2:c.2159_2160del	XP_011527113.1:p.Cys720SerfsTer?
XM_017027841.2:c.2186_2187del	XP_016883330.1:p.Cys729SerfsTer?
XM_017027842.2:c.2123_2124del	XP_016883331.1:p.Cys708SerfsTer?
XM_017027843.1:c.2120_2121del	XP_016883332.1:p.Cys707SerfsTer?
XM_017027844.2:c.2078_2079del	XP_016883333.1:p.Cys693SerfsTer?
XM_017027845.1:c.1151_1152del	XP_016883334.1:p.Cys384SerfsTer?
NM_004518.6:c.2051_2052del	NP_004509.2:p.Cys684SerfsTer?
NM_172106.3:c.2081_2082del	NP_742104.1:p.Cys694SerfsTer?
NM_172107.4:c.2135_2136del MANE Select	NP_742105.1:p.Cys712SerfsTer?
NM_172108.5:c.2042_2043del	NP_742106.1:p.Cys681SerfsTer?
NM_001382235.1:c.2189_2190del	NP_001369164.1:p.Cys730SerfsTer?