Canonical Allele Identifier: CA2838520116

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407285del , CM000682.2:g.63407285del	GRCh38
NC_000020.10:g.62038638del , CM000682.1:g.62038638del	GRCh37
NC_000020.9:g.61509082del	NCBI36
NG_009004.1:g.70359del
NG_009004.2:g.70359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2035del	ENSP00000516702.1:p.Ala679ProfsTer?
ENST00000359125.7:c.1981del MANE Select	ENSP00000352035.2:p.Ala661ProfsTer?
ENST00000637193.1:c.1378del	ENSP00000490734.1:p.Ala460ProfsTer?
ENST00000344462.8:c.1888del	ENSP00000339611.4:p.Ala630ProfsTer?
ENST00000357249.6:c.1549del	ENSP00000349789.3:p.Ala517ProfsTer?
ENST00000359125.6:c.1981del	ENSP00000352035.2:p.Ala661ProfsTer?
ENST00000360480.7:c.1897del	ENSP00000353668.3:p.Ala633ProfsTer?
ENST00000370224.5:c.2005del	ENSP00000359244.2:p.Ala669ProfsTer?
ENST00000625514.2:c.1969del	ENSP00000486040.1:p.Ala657ProfsTer?
ENST00000626839.2:c.1927del	ENSP00000486706.1:p.Ala643ProfsTer?
ENST00000629241.2:c.1897del	ENSP00000487142.1:p.Ala633ProfsTer?
ENST00000629676.2:c.1679+6168del	ENSP00000486194.1:n.1679+6168del
NM_004518.4:c.1897del	NP_004509.2:p.Ala633ProfsTer?
NM_172106.1:c.1927del	NP_742104.1:p.Ala643ProfsTer?
NM_172107.2:c.1981del	NP_742105.1:p.Ala661ProfsTer?
NM_172108.3:c.1888del	NP_742106.1:p.Ala630ProfsTer?
XM_006723787.1:c.2023del	XP_006723850.1:p.Ala675ProfsTer?
XM_011528807.1:c.2089del	XP_011527109.1:p.Ala697ProfsTer?
XM_011528808.1:c.2086del	XP_011527110.1:p.Ala696ProfsTer?
XM_011528809.1:c.2059del	XP_011527111.1:p.Ala687ProfsTer?
XM_011528810.1:c.2035del	XP_011527112.1:p.Ala679ProfsTer?
XM_011528811.1:c.2005del	XP_011527113.1:p.Ala669ProfsTer?
XM_011528812.1:c.1978del	XP_011527114.1:p.Ala660ProfsTer?
XM_011528813.1:c.1963del	XP_011527115.1:p.Ala655ProfsTer?
XM_011528814.1:c.1570del	XP_011527116.1:p.Ala524ProfsTer?
NM_004518.5:c.1897del	NP_004509.2:p.Ala633ProfsTer?
NM_172106.2:c.1927del	NP_742104.1:p.Ala643ProfsTer?
NM_172107.3:c.1981del	NP_742105.1:p.Ala661ProfsTer?
NM_172108.4:c.1888del	NP_742106.1:p.Ala630ProfsTer?
XM_011528810.2:c.2035del	XP_011527112.1:p.Ala679ProfsTer?
XM_011528811.2:c.2005del	XP_011527113.1:p.Ala669ProfsTer?
XM_017027841.2:c.2032del	XP_016883330.1:p.Ala678ProfsTer?
XM_017027842.2:c.1969del	XP_016883331.1:p.Ala657ProfsTer?
XM_017027843.1:c.1966del	XP_016883332.1:p.Ala656ProfsTer?
XM_017027844.2:c.1924del	XP_016883333.1:p.Ala642ProfsTer?
XM_017027845.1:c.997del	XP_016883334.1:p.Ala333ProfsTer?
NM_004518.6:c.1897del	NP_004509.2:p.Ala633ProfsTer?
NM_172106.3:c.1927del	NP_742104.1:p.Ala643ProfsTer?
NM_172107.4:c.1981del MANE Select	NP_742105.1:p.Ala661ProfsTer?
NM_172108.5:c.1888del	NP_742106.1:p.Ala630ProfsTer?
NM_001382235.1:c.2035del	NP_001369164.1:p.Ala679ProfsTer?