Canonical Allele Identifier: CA2374774433

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407135_63407136delinsCA , CM000682.2:g.63407135_63407136delinsCA	GRCh38
NC_000020.10:g.62038488_62038489delinsCA , CM000682.1:g.62038488_62038489delinsCA	GRCh37
NC_000020.9:g.61508932_61508933delinsCA	NCBI36
NG_009004.1:g.70505_70506delinsTG
NG_009004.2:g.70505_70506delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2181_2182delinsTG	ENSP00000516702.1:p.Pro727=
ENST00000359125.7:c.2127_2128delinsTG MANE Select	ENSP00000352035.2:p.Pro709=
ENST00000637193.1:c.1524_1525delinsTG	ENSP00000490734.1:p.Pro508=
ENST00000344462.8:c.2034_2035delinsTG	ENSP00000339611.4:p.Pro678=
ENST00000357249.6:c.1695_1696delinsTG	ENSP00000349789.3:p.Pro565=
ENST00000359125.6:c.2127_2128delinsTG	ENSP00000352035.2:p.Pro709=
ENST00000360480.7:c.2043_2044delinsTG	ENSP00000353668.3:p.Pro681=
ENST00000370224.5:c.2151_2152delinsTG	ENSP00000359244.2:p.Pro717=
ENST00000625514.2:c.2115_2116delinsTG	ENSP00000486040.1:p.Pro705=
ENST00000626839.2:c.2073_2074delinsTG	ENSP00000486706.1:p.Pro691=
ENST00000629241.2:c.2043_2044delinsTG	ENSP00000487142.1:p.Pro681=
ENST00000629676.2:c.1680-6293_1680-6292delinsTG	ENSP00000486194.1:n.1680-6293_1680-6292delinsTG
NM_004518.4:c.2043_2044delinsTG	NP_004509.2:p.Pro681=
NM_172106.1:c.2073_2074delinsTG	NP_742104.1:p.Pro691=
NM_172107.2:c.2127_2128delinsTG	NP_742105.1:p.Pro709=
NM_172108.3:c.2034_2035delinsTG	NP_742106.1:p.Pro678=
XM_006723787.1:c.2169_2170delinsTG	XP_006723850.1:p.Pro723=
XM_011528807.1:c.2235_2236delinsTG	XP_011527109.1:p.Pro745=
XM_011528808.1:c.2232_2233delinsTG	XP_011527110.1:p.Pro744=
XM_011528809.1:c.2205_2206delinsTG	XP_011527111.1:p.Pro735=
XM_011528810.1:c.2181_2182delinsTG	XP_011527112.1:p.Pro727=
XM_011528811.1:c.2151_2152delinsTG	XP_011527113.1:p.Pro717=
XM_011528812.1:c.2124_2125delinsTG	XP_011527114.1:p.Pro708=
XM_011528813.1:c.2109_2110delinsTG	XP_011527115.1:p.Pro703=
XM_011528814.1:c.1716_1717delinsTG	XP_011527116.1:p.Pro572=
NM_004518.5:c.2043_2044delinsTG	NP_004509.2:p.Pro681=
NM_172106.2:c.2073_2074delinsTG	NP_742104.1:p.Pro691=
NM_172107.3:c.2127_2128delinsTG	NP_742105.1:p.Pro709=
NM_172108.4:c.2034_2035delinsTG	NP_742106.1:p.Pro678=
XM_011528810.2:c.2181_2182delinsTG	XP_011527112.1:p.Pro727=
XM_011528811.2:c.2151_2152delinsTG	XP_011527113.1:p.Pro717=
XM_017027841.2:c.2178_2179delinsTG	XP_016883330.1:p.Pro726=
XM_017027842.2:c.2115_2116delinsTG	XP_016883331.1:p.Pro705=
XM_017027843.1:c.2112_2113delinsTG	XP_016883332.1:p.Pro704=
XM_017027844.2:c.2070_2071delinsTG	XP_016883333.1:p.Pro690=
XM_017027845.1:c.1143_1144delinsTG	XP_016883334.1:p.Pro381=
NM_004518.6:c.2043_2044delinsTG	NP_004509.2:p.Pro681=
NM_172106.3:c.2073_2074delinsTG	NP_742104.1:p.Pro691=
NM_172107.4:c.2127_2128delinsTG MANE Select	NP_742105.1:p.Pro709=
NM_172108.5:c.2034_2035delinsTG	NP_742106.1:p.Pro678=
NM_001382235.1:c.2181_2182delinsTG	NP_001369164.1:p.Pro727=